70:
166:(R672H; MIM *160270.0001 and R672C; MIM *160270.0002) caused substitution of arg672, an embryonic myosin residue retained post-embryonically. Of the remaining 6 patients in whom they found mutations, 3 had missense private de novo (E498G; MIM *160270.0006 and Y583S) or familial mutations (V825D; MIM *160270.0004); 3 other patients with sporadic expression had de novo mutations (T178I; MIM *160270.0003), which was also found in DA2B; 2 patients had no recognized mutations.
51:
232:, or hand correction is indicated to improve function or aesthetics. Operative measures should be pursued cautiously, with avoidance of radical measures and careful consideration of the abnormal muscle physiology in Freeman–Sheldon syndrome. Unfortunately, many surgical procedures have suboptimal outcomes, secondary to the
239:
When operative measures are to be undertaken, they should be planned for as early in life as is feasible, in consideration of the tendency for fragile health. Early interventions hold the possibility to minimise developmental delays and negate the necessity of relearning basic functions.
301:. Though respiratory challenges and complications faced by a patient with FSS can be numerous, the syndrome's primary involvement is limited to the musculoskeletal systems, and satisfactory quality and length of life can be expected with proper care.
181:
On the whole, DA1 is the least severe; DA2B is more severe with additional features that respond less favourably to therapy. DA2A (Freeman–Sheldon syndrome) is the most severe of the three, with more abnormalities and greater resistance to therapy.
2040:
121:
has been noted during infancy, but usually improves with age. The tongue may be small, and the limited movement of the soft palate may cause nasal speech. Often there is an H- or Y-shaped dimpling of the skin over the chin.
178:, related to distal arthrogryposis type 1 (DA1). In 1996, more strict criteria for the diagnosis of Freeman–Sheldon syndrome were drawn up, assigning Freeman–Sheldon syndrome as distal arthrogryposis type 2A (DA2A).
317:
By 1990, 65 patients had been reported in the literature, with no sex or ethnic preference notable. Some individuals present with minimal malformation; rarely patients have died during infancy as a result of severe
192:
In March 2006, Stevenson et al. published strict diagnostic criteria for distal arthrogryposis type 2A (DA2A) or
Freeman–Sheldon syndrome. These included two or more features of distal arthrogryposis:
2716:
342:
and surgical teams who would care for them. MH may also be triggered by stress in patients with muscular dystrophies. Much more research is warranted to evaluate this apparent relationship of
2990:
1063:
Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ (2006). "Mutations in embryonic myosin heavy chain (MYH3) cause
Freeman-Sheldon syndrome and Sheldon-Hall syndrome".
1778:
Zampino G, Conti G, Balducci F, Moschini M, Macchiaiolo M, Mastroiacovo P (March 1996). "Severe form of
Freeman-Sheldon syndrome associated with brain anomalies and hearing loss".
2952:
1215:
Vaitiekaitis AS, Hornstein L, Neale HW (September 1979). "A new surgical procedure for correction of lip deformity in cranio-carpo-tarsal dysplasia (whistling face syndrome)".
3049:
2352:
322:
involvement or respiratory complications. Several syndromes are related to the
Freeman–Sheldon syndrome spectrum, but more information is required before undertaking such
2549:
1304:
Malkawi H, Tarawneh M (July 1983). "The whistling face syndrome, or craniocarpotarsal dysplasia. Report of two cases in a father and son and review of the literature".
44:
Distal arthrogryposis type 2A (DA2A), craniocarpotarsal dysplasia, craniocarpotarsal dystrophy, cranio-carpo-tarsal syndrome, whistling face–windmill vane hand syndrome
2485:
2435:
2129:
309:
There are little data on prognosis. Rarely, some patients have died in infancy from respiratory failure; otherwise, life expectancy is considered to be normal.
262:(MH) may affect individuals with FSS, as well. Cruickshanks et al. (1999) reports uneventful use of non-MH-triggering agents. Reports have been published about
2554:
1961:
2973:
2941:
1444:
Wenner SM, Shalvoy RM (November 1989). "Two-stage correction of thumb adduction contracture in
Freeman-Sheldon syndrome (craniocarpotarsal dysplasia)".
2676:
2666:
3024:
2658:
1924:
Simosa V, Penchaszadeh VB, Bustos T (February 1989). "A new syndrome with distinct facial and auricular malformations and dominant inheritance".
2957:
2005:
3044:
2749:
2626:
2574:
1791:
2055:
1113:
655:
477:
393:
2122:
1131:
Hall JG, Reed SD, Greene G (February 1982). "The distal arthrogryposes: delineation of new entities—review and nosologic discussion".
3039:
2782:
562:
298:
1242:
Nara T (July 1981). "Reconstruction of an upper lip and the coloboma in the nasal ala accompanying with
Freeman-Sheldon syndrome".
2777:
2696:
285:
General health maintenance should be the therapeutic emphasis in
Freeman–Sheldon syndrome. The focus is on limiting exposure to
2586:
131:
3004:
2885:
2839:
2671:
2661:
2686:
2325:
641:
Krakowiak PA, Bohnsack JF, Carey JC, Bamshad M (1998). "Clinical analysis of a variant of
Freeman-Sheldon syndrome (DA2B)".
1555:
Munro HM, Butler PJ, Washington EJ (1997). "Freeman-Sheldon (whistling face) syndrome. Anaesthetic and airway management".
158:(MYH3; MIM *160270), at 17p-13.1-pter, caused classic FSS phenotype, in their screening of 28 (21 sporadic and 7 familial)
2834:
2803:
2754:
2631:
2601:
2505:
2455:
2425:
2115:
2475:
2409:
2295:
2272:
2249:
2211:
2173:
464:
Bamshad M, Jorde LB, Carey JC (November 1996). "A revised and extended classification of the distal arthrogryposes".
155:
2874:
2855:
2772:
1269:
Ferreira LM, Minami E, Andrews Jde M (April 1994). "Freeman-Sheldon syndrome: surgical correction of microstomia".
1842:"Genetic heterogeneity in the Freeman-Sheldon syndrome: two adults with probable autosomal recessive inheritance"
1813:
Rao SS, Chary R, Karan S (March 1979). "Freeman
Sheldon syndrome in a newborn (whistling face)--a case report".
2936:
2931:
2829:
2653:
2404:
2711:
2231:
874:
Kousseff BG, McConnachie P, Hadro TA (1982). "Autosomal recessive type of whistling face syndrome in twins".
679:"Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B"
3034:
3029:
2968:
2910:
2515:
289:
because the musculoskeletal abnormalities make recovery from routine infections much more difficult in FSS.
118:
2621:
2579:
2178:
973:
Sánchez JM, Kaminker CP (1986). "New evidence for genetic heterogeneity of the
Freeman-Sheldon syndrome".
374:
335:
319:
259:
2095:
250:
in Freeman–Sheldon syndrome, therapeutic measures may have unfavourable outcomes. Difficult endotracheal
2368:
2226:
2183:
363:
359:
99:
95:
2880:
201:
151:
1347:
Call WH, Strickland JW (March 1981). "Functional hand reconstruction in the whistling-face syndrome".
876:
263:
729:"Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes"
197:
150:(MIM 277720). Alves and Azevedo (1977) note most reported cases of DA2A have been identified as new
69:
2342:
2044:
575:
413:
186:
147:
2849:
2525:
2495:
2465:
2445:
2414:
1745:
1580:
1329:
1089:
975:
901:
856:
831:
Wettstein A, Buchinger G, Braun A, von Bazan UB (1980). "A family with whistling-face-syndrome".
804:
Jorgenson RJ (1974). "M--craniocarpotarsal dystrophy (whistling face syndrome) in two families".
733:
683:
643:
605:
441:
286:
271:
163:
143:
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2188:
2066:
2001:
1978:
1941:
1906:
1871:
1822:
1795:
1737:
1720:
Vas L, Naregal P (1998). "Anaesthetic management of a patient with Freeman Sheldon syndrome".
1702:
1675:
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1607:
1572:
1537:
1496:
1461:
1426:
1399:
1364:
1321:
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893:
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533:
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58:
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1970:
1933:
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699:
691:
651:
613:
523:
515:
473:
425:
94:) and is the most severe form of distal arthrogryposis (DA). It was originally described by
63:
1959:
Litman RS, Rosenberg H (2005). "Malignant hyperthermia: update on susceptibility testing".
117:, low-set ears, a long philtrum, gradual hearing loss, scoliosis and walking difficulties.
2701:
2383:
2347:
2320:
339:
138:, a syndrome very similar in phenotypic expression to classic FSS, to 11p15.5-pter. Other
50:
412:
Stevenson, DA; Carey JC; Palumbos J; Rutherford A; Dolcourt J; Bamshad MJ (March 2006).
2898:
2395:
2216:
2049:
1866:
1841:
1192:
1167:
1035:
1010:
754:
728:
704:
678:
618:
600:
528:
503:
274:
175:
91:
1568:
1457:
1360:
162:
with distal arthrogryposis type 2A. In 20 patients (12 and 8 probands, respectively),
3018:
2617:
2147:
1733:
1317:
1282:
905:
1749:
1584:
1333:
2138:
1093:
860:
445:
347:
218:
1516:"Freeman-Sheldon syndrome: report of three cases and the anaesthetic implications"
17:
2964:
2927:
2893:
2732:
2647:
2543:
2391:
2337:
2264:
2156:
1065:
290:
267:
222:
193:
113:
The symptoms of Freeman–Sheldon syndrome include drooping of the upper eyelids,
2071:
2980:
2597:
2521:
2511:
2501:
2491:
2481:
2471:
2421:
343:
294:
251:
247:
114:
1974:
677:
Sung SS, Brassington AM, Krakowiak PA, Carey JC, Jorde LB, Bamshad M (2003).
2905:
2798:
2461:
2451:
2441:
2431:
2399:
2387:
2315:
1937:
1792:
10.1002/(SICI)1096-8628(19960329)62:3<293::AID-AJMG17>3.0.CO;2-F
1144:
987:
1982:
1902:
1706:
1679:
1492:
1395:
1085:
763:
713:
656:
10.1002/(SICI)1096-8628(19980226)76:1<93::AID-AJMG17>3.0.CO;2-K
537:
478:
10.1002/(SICI)1096-8628(19961111)65:4<277::AID-AJMG6>3.0.CO;2-M
437:
429:
1945:
1910:
1875:
1799:
1741:
1638:
1611:
1576:
1541:
1500:
1465:
1430:
1403:
1368:
1325:
1290:
1255:
1201:
1152:
995:
959:
932:
897:
889:
852:
817:
790:
663:
627:
519:
485:
414:"Clinical characteristics and natural history of Freeman-Sheldon syndrome"
338:
in FSS. Such knowledge would benefit possible surgical candidates and the
105:
As of 2007, only about 100 cases had been reported in medical literature.
2825:
2241:
2090:
1857:
1826:
1228:
1183:
1044:
1026:
919:
Kaul KK (1981). "Whistling face syndrome (craniocarpotarsal dysplasia)".
323:
233:
229:
139:
87:
2032:
2948:
2865:
2845:
2741:
2332:
2107:
1670:
1654:"Anesthesia for Freeman-Sheldon syndrome using a laryngeal mask airway"
1653:
1532:
1515:
844:
225:
159:
1168:"Freeman-Sheldon syndrome: a disorder of congenital myopathic origin?"
346:
hyperpyrexia, MH, and stress. Further research is wanted to determine
2764:
2570:
2198:
255:
244:
130:
FSS is caused by genetic changes. Krakowiak et al. (1998) mapped the
504:"Cranio-carpo-tarsal dystrophy: undescribed congenital malformation"
1077:
745:
695:
377:
is a writer and disability advocate with Freeman-Sheldon syndrome.
2539:
2535:
2531:
2287:
2165:
1693:
Namiki M, Kawamata T, Yamakage M, Matsuno A, Namiki A (2000). "".
1625:
Sobrado CG, Ribera M, Martí M, Erdocia J, Rodríguez R (1994). "".
1011:"Recessive form of Freeman-Sheldon's syndrome or 'whistling face'"
258:
access complicate operative decisions in many DA2A patients, and
2985:
2060:
1118:
MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC; MYH3 - 160720
1117:
397:
135:
2111:
86:) is a very rare form of multiple congenital contracture (MCC)
334:
One research priority is to determine the role and nature of
601:"A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter"
2717:
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
599:
Krakowiak PA, O'Quinn JR, Bohnsack JF, et al. (1997).
142:
have been found as well. In FSS, inheritance may be either
2991:
Microcephalic osteodysplastic primordial dwarfism type II
727:
Sung SS, Brassington AM, Grannatt K, et al. (2003).
185:
Freeman–Sheldon syndrome has been described as a type of
350:
of psychopathology in FSS and refine therapy protocols.
1840:
Fitzsimmons JS, Zaldua V, Chrispin AR (October 1984).
1598:
Yamamoto S, Osuga T, Okada M, et al. (1994). "".
553:
James, William; Berger, Timothy; Elston, Dirk (2005).
2953:
Epidermolysis bullosa simplex with muscular dystrophy
1998:
Beautiful people: my thirteen truths about disability
1417:
Martini AK, Banniza von Bazan U (December 1982). "".
2022:
1166:
Vanĕk J, Janda J, Amblerová V, Losan F (June 1986).
2920:
2864:
2816:
2791:
2763:
2740:
2731:
2640:
2610:
2563:
2376:
2367:
2308:
2286:
2263:
2240:
2197:
2164:
2155:
2146:
2081:
2026:
555:
Andrews' Diseases of the Skin: Clinical Dermatology
57:
40:
35:
2353:Terminal osseous dysplasia with pigmentary defects
154:. Toydemir et al. (2006) showed that mutations in
1058:
1056:
1054:
580:NORD (National Organization for Rare Disorders)
2486:Meesmann juvenile epithelial corneal dystrophy
2436:Meesmann juvenile epithelial corneal dystrophy
2123:
1652:Cruickshanks GF, Brown S, Chitayat D (1999).
366:(1893–1972), who first described it in 1938.
174:Freeman–Sheldon syndrome is a type of distal
8:
2974:Arrhythmogenic right ventricular dysplasia 9
2942:Arrhythmogenic right ventricular dysplasia 8
1382:Martini AK, Banniza von Bazan U (1983). "".
946:Guzzanti V, Toniolo RM, Lembo A (1990). "".
358:It is named for British orthopaedic surgeon
2555:Reticular pigmented anomaly of the flexures
407:
405:
217:Patients must have early consultation with
2737:
2373:
2161:
2152:
2130:
2116:
2108:
2023:
68:
49:
32:
3050:Syndromes with craniofacial abnormalities
1865:
1669:
1531:
1191:
1034:
753:
703:
617:
549:
547:
527:
497:
495:
459:
457:
455:
132:distal arthrogryposis multiplex congenita
2550:Naegeli–Franceschetti–Jadassohn syndrome
1109:
1107:
1105:
1103:
386:
1121:b .0001 c .0002 d .0004 e .0006, .0003
213:Surgical and anesthetic considerations
2958:Epidermolysis bullosa simplex of Ogna
2227:DFN A3, 4, 11, 17, 22; B2, 30, 37, 48
7:
2575:Desmin-related myofibrillar myopathy
2212:Hypertrophic cardiomyopathy 1, 8, 10
2667:Emery–Dreifuss muscular dystrophy 2
1114:Online Mendelian Inheritance in Man
394:Online Mendelian Inheritance in Man
2932:Striate palmoplantar keratoderma 2
2627:Charcot–Marie–Tooth disease 1F, 2E
2405:Striate palmoplantar keratoderma 3
362:(1900–1975) and British physician
299:upper respiratory tract infections
25:
2783:Asphyxiating thoracic dysplasia 3
2672:Limb-girdle muscular dystrophy 1B
1569:10.1046/j.1460-9592.1997.d01-90.x
1479:Aldinger G, Eulert J (1983). "".
2778:Short rib-polydactyly syndrome 3
2755:Hereditary spastic paraplegia 10
2250:Hypertrophic cardiomyopathy 7, 2
1734:10.1046/j.1460-9592.1998.00676.x
1318:10.1097/01241398-198307000-00017
502:Freeman, EA; Sheldon JH (1938).
2677:Charcot–Marie–Tooth disease 2B1
777:Aalam M, Kühhirt M (1972). "".
3025:Syndromes affecting the tongue
2886:Familial adenomatous polyposis
2840:Hereditary elliptocytosis 2, 3
2750:Charcot–Marie–Tooth disease 2A
2662:Familial partial lipodystrophy
2174:Hypertrophic cardiomyopathy 11
2000:. New York City: Hachette Go.
806:Birth Defects Orig. Artic. Ser
204:, and 'H-shaped' chin dimple.
156:embryonic myosin heavy chain 3
146:, most often demonstrated. or
1:
2835:Hereditary spherocytosis 2, 3
2804:Cavernous venous malformation
2632:Amyotrophic lateral sclerosis
2602:Amyotrophic lateral sclerosis
2506:Epidermolysis bullosa simplex
2456:Epidermolysis bullosa simplex
2426:Ichthyosis bullosa of Siemens
2296:Hypertrophic cardiomyopathy 9
2273:Hypertrophic cardiomyopathy 3
1458:10.1016/S0363-5023(89)80040-1
1419:Handchir Mikrochir Plast Chir
1361:10.1016/s0363-5023(81)80168-2
1009:Alves AF, Azevedo ES (1977).
2476:Epidermolytic hyperkeratosis
2410:Epidermolytic hyperkeratosis
1763:"Freeman-Sheldon syndrome".
1514:Laishley RS, Roy WL (1986).
1283:10.1016/0007-1226(94)90056-6
297:often follow seemingly mild
3045:Syndromes affecting the eye
2697:Buschke–Ollendorff syndrome
3066:
2856:Hereditary spherocytosis 1
2773:Primary ciliary dyskinesia
2179:Dilated cardiomyopathy 1AA
948:Arch Putti Chir Organi Mov
576:"Freeman Sheldon Syndrome"
3000:
2687:Barraquer–Simons syndrome
2580:Dilated cardiomyopathy 1I
2326:Weill–Marchesani syndrome
1627:Rev Esp Anestesiol Reanim
48:
3040:Syndromes with scoliosis
2830:Spinocerebellar ataxia 5
2654:Mandibuloacral dysplasia
2222:Freeman–Sheldon syndrome
1975:10.1001/jama.293.23.2918
557:. (10th ed.). Saunders.
80:Freeman–Sheldon syndrome
36:Freeman–Sheldon syndrome
27:Rare congenital disorder
2969:Skin fragility syndrome
2911:Giant axonal neuropathy
2516:Steatocystoma multiplex
1996:Blake, Melissa (2024).
1938:10.1002/ajmg.1320320209
1145:10.1002/ajmg.1320110208
988:10.1002/ajmg.1320250312
119:Gastroesophageal reflux
2255:Nemaline myopathy 4, 5
1903:10.1055/s-2008-1039687
1891:Z Orthop Ihre Grenzgeb
1493:10.1055/s-2008-1053289
1481:Z Orthop Ihre Grenzgeb
1396:10.1055/s-2008-1053288
1384:Z Orthop Ihre Grenzgeb
779:Z Orthop Ihre Grenzgeb
430:10.1542/peds.2005-1219
375:Melissa Blake (writer)
336:malignant hyperthermia
320:central nervous system
260:malignant hyperthermia
3005:Cytoskeletal proteins
1889:Träger D (1987). "".
1765:Orphanet Encyclopedia
890:10.1542/peds.69.3.328
520:10.1136/adc.13.75.277
364:Joseph Harold Sheldon
360:Ernest Arthur Freeman
228:, when craniofacial,
100:Joseph Harold Sheldon
96:Ernest Arthur Freeman
1858:10.1136/jmg.21.5.364
1184:10.1136/jmg.23.3.231
1027:10.1136/jmg.14.2.139
264:spina bifida occulta
243:Due to the abnormal
134:(DA2B; MIM #601680)
2712:Pelger–Huet anomaly
2622:Parkinson's disease
2343:Boomerang dysplasia
2278:Nemaline myopathy 1
2232:May–Hegglin anomaly
2189:Nemaline myopathy 3
370:Notable individuals
330:Research directions
287:infectious diseases
187:congenital myopathy
148:autosomal recessive
2881:Gardner's syndrome
2850:Long QT syndrome 4
2526:Familial cirrhosis
2496:White sponge nevus
2466:Familial cirrhosis
2446:White sponge nevus
2082:External resources
1671:10.1007/BF03013916
1533:10.1007/BF03010755
1526:(3 Pt 1): 388–93.
976:Am. J. Med. Genet.
845:10.1007/BF00291765
734:Am. J. Hum. Genet.
684:Am. J. Hum. Genet.
644:Am. J. Med. Genet.
606:Am. J. Hum. Genet.
202:nasolabial creases
164:missense mutations
144:autosomal dominant
109:Signs and symptoms
18:Whistling syndrome
3012:
3011:
2937:Carvajal syndrome
2812:
2811:
2727:
2726:
2591:Alexander disease
2363:
2362:
2304:
2303:
2217:Usher syndrome 1B
2207:Elejalde syndrome
2105:
2104:
2007:978-0-306-83042-6
1926:Am. J. Med. Genet
1780:Am. J. Med. Genet
1520:Can Anaesth Soc J
1244:Nippon Geka Hokan
1133:Am. J. Med. Genet
466:Am. J. Med. Genet
236:of the syndrome.
152:allelic variation
77:
76:
30:Medical condition
16:(Redirected from
3057:
3003:Related topics:
2738:
2374:
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2153:
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2125:
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1993:
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1722:Paediatr Anaesth
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1557:Paediatr Anaesth
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1306:J Pediatr Orthop
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937:
936:
916:
910:
909:
871:
865:
864:
828:
822:
821:
801:
795:
794:
774:
768:
767:
757:
724:
718:
717:
707:
674:
668:
667:
638:
632:
631:
621:
596:
590:
589:
587:
586:
572:
566:
551:
542:
541:
531:
499:
490:
489:
461:
450:
449:
409:
400:
391:
281:Medical emphasis
277:in intubations.
73:
72:
64:Medical genetics
53:
33:
21:
3065:
3064:
3060:
3059:
3058:
3056:
3055:
3054:
3015:
3014:
3013:
3008:
2996:
2916:
2860:
2808:
2787:
2759:
2723:
2702:Osteopoikilosis
2636:
2606:
2559:
2359:
2348:Larsen syndrome
2321:Marfan syndrome
2300:
2282:
2259:
2236:
2193:
2142:
2136:
2106:
2101:
2100:
2077:
2076:
2035:
2021:
2016:
2015:
2008:
1995:
1994:
1990:
1969:(23): 2918–24.
1958:
1957:
1953:
1923:
1922:
1918:
1888:
1887:
1883:
1839:
1838:
1834:
1812:
1811:
1807:
1777:
1776:
1772:
1767:. Comier-Daire.
1762:
1761:
1757:
1719:
1718:
1714:
1697:(in Japanese).
1692:
1691:
1687:
1651:
1650:
1646:
1624:
1623:
1619:
1606:(11): 1748–53.
1602:(in Japanese).
1597:
1596:
1592:
1554:
1553:
1549:
1513:
1512:
1508:
1478:
1477:
1473:
1443:
1442:
1438:
1416:
1415:
1411:
1381:
1380:
1376:
1346:
1345:
1341:
1303:
1302:
1298:
1271:Br J Plast Surg
1268:
1267:
1263:
1241:
1240:
1236:
1214:
1213:
1209:
1165:
1164:
1160:
1130:
1129:
1125:
1120:
1112:
1101:
1062:
1061:
1052:
1008:
1007:
1003:
972:
971:
967:
945:
944:
940:
918:
917:
913:
873:
872:
868:
830:
829:
825:
803:
802:
798:
776:
775:
771:
726:
725:
721:
676:
675:
671:
640:
639:
635:
598:
597:
593:
584:
582:
574:
573:
569:
552:
545:
501:
500:
493:
463:
462:
453:
411:
410:
403:
392:
388:
383:
372:
356:
340:anaesthesiology
332:
315:
307:
283:
270:management and
215:
210:
172:
128:
111:
67:
31:
28:
23:
22:
15:
12:
11:
5:
3063:
3061:
3053:
3052:
3047:
3042:
3037:
3035:Rare syndromes
3032:
3030:Genodermatoses
3027:
3017:
3016:
3010:
3009:
3001:
2998:
2997:
2995:
2994:
2977:
2976:
2971:
2961:
2960:
2955:
2945:
2944:
2939:
2934:
2924:
2922:
2918:
2917:
2915:
2914:
2902:
2899:Naxos syndrome
2890:
2889:
2888:
2883:
2870:
2868:
2862:
2861:
2859:
2858:
2843:
2842:
2837:
2832:
2822:
2820:
2814:
2813:
2810:
2809:
2807:
2806:
2801:
2795:
2793:
2789:
2788:
2786:
2785:
2780:
2775:
2769:
2767:
2761:
2760:
2758:
2757:
2752:
2746:
2744:
2735:
2729:
2728:
2725:
2724:
2722:
2721:
2720:
2719:
2714:
2706:
2705:
2704:
2699:
2691:
2690:
2689:
2681:
2680:
2679:
2674:
2669:
2664:
2656:
2644:
2642:
2638:
2637:
2635:
2634:
2629:
2624:
2614:
2612:
2608:
2607:
2605:
2604:
2594:
2593:
2583:
2582:
2577:
2567:
2565:
2561:
2560:
2558:
2557:
2552:
2547:
2529:
2519:
2509:
2499:
2489:
2479:
2469:
2459:
2449:
2439:
2429:
2419:
2418:
2417:
2412:
2407:
2396:hyperkeratosis
2380:
2378:
2371:
2365:
2364:
2361:
2360:
2358:
2357:
2356:
2355:
2350:
2345:
2340:
2330:
2329:
2328:
2323:
2312:
2310:
2306:
2305:
2302:
2301:
2299:
2298:
2292:
2290:
2284:
2283:
2281:
2280:
2275:
2269:
2267:
2261:
2260:
2258:
2257:
2252:
2246:
2244:
2238:
2237:
2235:
2234:
2229:
2224:
2219:
2214:
2209:
2203:
2201:
2195:
2194:
2192:
2191:
2186:
2181:
2176:
2170:
2168:
2159:
2150:
2148:Microfilaments
2144:
2143:
2137:
2135:
2134:
2127:
2120:
2112:
2103:
2102:
2099:
2098:
2086:
2085:
2083:
2079:
2078:
2075:
2074:
2063:
2052:
2036:
2031:
2030:
2028:
2027:Classification
2020:
2019:External links
2017:
2014:
2013:
2006:
1988:
1951:
1916:
1881:
1832:
1815:Indian Pediatr
1805:
1770:
1755:
1712:
1685:
1644:
1629:(in Spanish).
1617:
1590:
1547:
1506:
1471:
1446:J Hand Surg Am
1436:
1409:
1374:
1349:J Hand Surg Am
1339:
1296:
1261:
1234:
1207:
1158:
1139:(2): 185–239.
1123:
1099:
1078:10.1038/ng1775
1050:
1001:
965:
950:(in Italian).
938:
921:Indian Pediatr
911:
866:
823:
796:
769:
746:10.1086/368294
719:
696:10.1086/376418
669:
633:
591:
567:
543:
514:(75): 277–83.
508:Arch Dis Child
491:
451:
401:
385:
384:
382:
379:
371:
368:
355:
352:
331:
328:
314:
311:
306:
303:
282:
279:
275:kyphoscoliosis
214:
211:
209:
206:
198:whistling-face
176:arthrogryposis
171:
168:
127:
124:
110:
107:
92:arthrogryposes
75:
74:
61:
55:
54:
46:
45:
42:
38:
37:
29:
26:
24:
14:
13:
10:
9:
6:
4:
3:
2:
3062:
3051:
3048:
3046:
3043:
3041:
3038:
3036:
3033:
3031:
3028:
3026:
3023:
3022:
3020:
3007:
3006:
2999:
2992:
2988:
2987:
2982:
2979:
2978:
2975:
2972:
2970:
2966:
2963:
2962:
2959:
2956:
2954:
2950:
2947:
2946:
2943:
2940:
2938:
2935:
2933:
2929:
2926:
2925:
2923:
2919:
2912:
2908:
2907:
2903:
2900:
2896:
2895:
2891:
2887:
2884:
2882:
2879:
2878:
2877:
2876:
2872:
2871:
2869:
2867:
2863:
2857:
2854:
2853:
2852:
2851:
2847:
2841:
2838:
2836:
2833:
2831:
2827:
2824:
2823:
2821:
2819:
2815:
2805:
2802:
2800:
2797:
2796:
2794:
2790:
2784:
2781:
2779:
2776:
2774:
2771:
2770:
2768:
2766:
2762:
2756:
2753:
2751:
2748:
2747:
2745:
2743:
2739:
2736:
2734:
2730:
2718:
2715:
2713:
2710:
2709:
2707:
2703:
2700:
2698:
2695:
2694:
2692:
2688:
2685:
2684:
2682:
2678:
2675:
2673:
2670:
2668:
2665:
2663:
2660:
2657:
2655:
2652:
2651:
2649:
2646:
2645:
2643:
2639:
2633:
2630:
2628:
2625:
2623:
2619:
2618:Neurofilament
2616:
2615:
2613:
2609:
2603:
2599:
2596:
2595:
2592:
2588:
2585:
2584:
2581:
2578:
2576:
2572:
2569:
2568:
2566:
2562:
2556:
2553:
2551:
2548:
2545:
2541:
2537:
2533:
2530:
2527:
2523:
2520:
2517:
2513:
2510:
2507:
2503:
2500:
2497:
2493:
2490:
2487:
2483:
2480:
2477:
2473:
2470:
2467:
2463:
2460:
2457:
2453:
2450:
2447:
2443:
2440:
2437:
2433:
2430:
2427:
2423:
2420:
2416:
2413:
2411:
2408:
2406:
2403:
2402:
2401:
2397:
2393:
2389:
2385:
2384:Keratinopathy
2382:
2381:
2379:
2375:
2372:
2370:
2366:
2354:
2351:
2349:
2346:
2344:
2341:
2339:
2338:FG syndrome 2
2336:
2335:
2334:
2331:
2327:
2324:
2322:
2319:
2318:
2317:
2314:
2313:
2311:
2307:
2297:
2294:
2293:
2291:
2289:
2285:
2279:
2276:
2274:
2271:
2270:
2268:
2266:
2262:
2256:
2253:
2251:
2248:
2247:
2245:
2243:
2239:
2233:
2230:
2228:
2225:
2223:
2220:
2218:
2215:
2213:
2210:
2208:
2205:
2204:
2202:
2200:
2196:
2190:
2187:
2185:
2182:
2180:
2177:
2175:
2172:
2171:
2169:
2167:
2163:
2160:
2158:
2154:
2151:
2149:
2145:
2140:
2133:
2128:
2126:
2121:
2119:
2114:
2113:
2110:
2097:
2093:
2092:
2088:
2087:
2084:
2080:
2073:
2069:
2068:
2064:
2062:
2058:
2057:
2053:
2051:
2047:
2046:
2042:
2038:
2037:
2034:
2029:
2025:
2018:
2009:
2003:
1999:
1992:
1989:
1984:
1980:
1976:
1972:
1968:
1964:
1963:
1955:
1952:
1947:
1943:
1939:
1935:
1931:
1927:
1920:
1917:
1912:
1908:
1904:
1900:
1896:
1893:(in German).
1892:
1885:
1882:
1877:
1873:
1868:
1863:
1859:
1855:
1851:
1847:
1846:J. Med. Genet
1843:
1836:
1833:
1828:
1824:
1820:
1816:
1809:
1806:
1801:
1797:
1793:
1789:
1785:
1781:
1774:
1771:
1766:
1759:
1756:
1751:
1747:
1743:
1739:
1735:
1731:
1727:
1723:
1716:
1713:
1708:
1704:
1700:
1696:
1689:
1686:
1681:
1677:
1672:
1667:
1663:
1659:
1658:Can J Anaesth
1655:
1648:
1645:
1640:
1636:
1632:
1628:
1621:
1618:
1613:
1609:
1605:
1601:
1594:
1591:
1586:
1582:
1578:
1574:
1570:
1566:
1562:
1558:
1551:
1548:
1543:
1539:
1534:
1529:
1525:
1521:
1517:
1510:
1507:
1502:
1498:
1494:
1490:
1486:
1483:(in German).
1482:
1475:
1472:
1467:
1463:
1459:
1455:
1452:(6): 937–40.
1451:
1447:
1440:
1437:
1432:
1428:
1424:
1421:(in German).
1420:
1413:
1410:
1405:
1401:
1397:
1393:
1389:
1386:(in German).
1385:
1378:
1375:
1370:
1366:
1362:
1358:
1355:(2): 148–51.
1354:
1350:
1343:
1340:
1335:
1331:
1327:
1323:
1319:
1315:
1311:
1307:
1300:
1297:
1292:
1288:
1284:
1280:
1276:
1272:
1265:
1262:
1257:
1253:
1250:(4): 626–32.
1249:
1245:
1238:
1235:
1230:
1226:
1223:(9): 669–72.
1222:
1218:
1211:
1208:
1203:
1199:
1194:
1189:
1185:
1181:
1177:
1173:
1172:J. Med. Genet
1169:
1162:
1159:
1154:
1150:
1146:
1142:
1138:
1134:
1127:
1124:
1119:
1115:
1110:
1108:
1106:
1104:
1100:
1095:
1091:
1087:
1083:
1079:
1075:
1071:
1068:
1067:
1059:
1057:
1055:
1051:
1046:
1042:
1037:
1032:
1028:
1024:
1021:(2): 139–41.
1020:
1016:
1015:J. Med. Genet
1012:
1005:
1002:
997:
993:
989:
985:
982:(3): 507–11.
981:
978:
977:
969:
966:
961:
957:
954:(1): 215–22.
953:
949:
942:
939:
934:
930:
926:
922:
915:
912:
907:
903:
899:
895:
891:
887:
884:(3): 328–31.
883:
879:
878:
870:
867:
862:
858:
854:
850:
846:
842:
839:(2): 177–89.
838:
834:
827:
824:
819:
815:
812:(5): 237–42.
811:
807:
800:
797:
792:
788:
784:
781:(in German).
780:
773:
770:
765:
761:
756:
751:
747:
743:
740:(3): 681–90.
739:
736:
735:
730:
723:
720:
715:
711:
706:
701:
697:
693:
689:
686:
685:
680:
673:
670:
665:
661:
657:
653:
649:
646:
645:
637:
634:
629:
625:
620:
615:
612:(2): 426–32.
611:
608:
607:
602:
595:
592:
581:
577:
571:
568:
564:
563:0-7216-2921-0
560:
556:
550:
548:
544:
539:
535:
530:
525:
521:
517:
513:
509:
505:
498:
496:
492:
487:
483:
479:
475:
472:(4): 277–81.
471:
467:
460:
458:
456:
452:
447:
443:
439:
435:
431:
427:
424:(3): 754–62.
423:
419:
415:
408:
406:
402:
399:
395:
390:
387:
380:
378:
376:
369:
367:
365:
361:
353:
351:
349:
345:
341:
337:
329:
327:
326:delineation.
325:
321:
312:
310:
304:
302:
300:
296:
292:
288:
280:
278:
276:
273:
269:
265:
261:
257:
253:
249:
246:
241:
237:
235:
231:
227:
224:
220:
212:
207:
205:
203:
199:
195:
190:
188:
183:
179:
177:
169:
167:
165:
161:
157:
153:
149:
145:
141:
137:
133:
125:
123:
120:
116:
108:
106:
103:
101:
97:
93:
89:
85:
81:
71:
65:
62:
60:
56:
52:
47:
43:
39:
34:
19:
3002:
2984:
2904:
2892:
2873:
2844:
2733:Microtubules
2221:
2139:Cytoskeletal
2089:
2065:
2054:
2039:
1997:
1991:
1966:
1960:
1954:
1932:(2): 184–6.
1929:
1925:
1919:
1897:(1): 106–7.
1894:
1890:
1884:
1852:(5): 364–8.
1849:
1845:
1835:
1821:(3): 291–2.
1818:
1814:
1808:
1786:(3): 293–6.
1783:
1779:
1773:
1764:
1758:
1728:(2): 175–7.
1725:
1721:
1715:
1701:(8): 901–2.
1698:
1694:
1688:
1664:(8): 783–7.
1661:
1657:
1647:
1633:(3): 182–4.
1630:
1626:
1620:
1603:
1599:
1593:
1563:(4): 345–8.
1560:
1556:
1550:
1523:
1519:
1509:
1487:(5): 630–3.
1484:
1480:
1474:
1449:
1445:
1439:
1425:(4): 210–2.
1422:
1418:
1412:
1390:(5): 623–9.
1387:
1383:
1377:
1352:
1348:
1342:
1312:(3): 364–9.
1309:
1305:
1299:
1277:(3): 201–2.
1274:
1270:
1264:
1247:
1243:
1237:
1220:
1216:
1210:
1178:(3): 231–6.
1175:
1171:
1161:
1136:
1132:
1126:
1072:(5): 561–5.
1069:
1064:
1018:
1014:
1004:
979:
974:
968:
951:
947:
941:
924:
920:
914:
881:
875:
869:
836:
832:
826:
809:
805:
799:
785:(3): 395–8.
782:
778:
772:
737:
732:
722:
690:(1): 212–4.
687:
682:
672:
647:
642:
636:
609:
604:
594:
583:. Retrieved
579:
570:
554:
511:
507:
469:
465:
421:
417:
389:
373:
357:
348:epidemiology
333:
316:
313:Epidemiology
308:
284:
242:
238:
219:craniofacial
216:
191:
184:
180:
173:
129:
112:
104:
83:
79:
78:
2965:plakophilin
2928:desmoplakin
2894:plakoglobin
2648:Laminopathy
2544:Monilethrix
2392:keratoderma
2265:Tropomyosin
2157:Myofilament
1217:J Oral Surg
1066:Nat. Genet.
927:(1): 72–3.
650:(1): 93–8.
324:nosological
291:Pneumonitis
268:anaesthesia
252:intubations
223:orthopaedic
194:microstomia
41:Other names
3019:Categories
2981:centrosome
2598:Peripherin
2067:DiseasesDB
877:Pediatrics
833:Hum. Genet
585:2019-09-12
418:Pediatrics
381:References
344:idiopathic
295:bronchitis
248:physiology
208:Management
115:strabismus
2799:Tauopathy
2388:keratosis
2316:Fibrillin
906:245095688
305:Prognosis
170:Diagnosis
140:mutations
102:in 1938.
88:syndromes
59:Specialty
2826:Spectrin
2818:Membrane
2659:Dunnigan
2242:Troponin
2091:Orphanet
1983:15956637
1750:37359095
1707:10998888
1680:10451140
1585:40852324
1334:22025528
1116:(OMIM):
1086:16642020
764:12592607
714:12865991
538:21032118
438:16510655
396:(OMIM):
272:cervical
234:myopathy
230:clubfoot
226:surgeons
160:probands
2949:plectin
2866:Catenin
2846:Ankyrin
2742:Kinesin
2650:: LMNA
2333:Filamin
2141:defects
1946:2929657
1911:3577337
1876:6502650
1867:1049318
1800:8882790
1742:9549749
1639:8059048
1612:7861610
1577:9243695
1542:3719442
1501:6649811
1466:2584652
1431:6763591
1404:6649810
1369:7229290
1326:6874936
1291:8193861
1256:7316645
1202:3723551
1193:1049633
1153:7039311
1094:8226091
1036:1013533
996:3789012
960:2136374
933:7262998
898:7199706
861:8059018
853:7450762
818:4220006
791:4263226
755:1180243
705:1180583
664:9508073
628:9012416
619:1712403
529:1975576
486:8923935
446:7952828
2765:Dynein
2693:LEMD3
2571:Desmin
2199:Myosin
2184:DFNA20
2061:193700
2050:759.89
2004:
1981:
1944:
1909:
1874:
1864:
1827:110675
1825:
1798:
1748:
1740:
1705:
1678:
1637:
1610:
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1540:
1499:
1464:
1429:
1402:
1367:
1332:
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1289:
1254:
1229:288890
1227:
1200:
1190:
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1084:
1045:856233
1043:
1033:
994:
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896:
859:
851:
816:
789:
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712:
702:
662:
626:
616:
561:
536:
526:
484:
444:
436:
398:193700
354:Eponym
245:muscle
66:
2921:Other
2792:Other
2683:LMNB
2540:KRT86
2536:KRT83
2532:KRT81
2522:KRT18
2512:KRT17
2502:KRT14
2492:KRT13
2482:KRT12
2472:KRT10
2422:KRT2E
2309:Other
2288:Titin
2166:Actin
2072:31817
1746:S2CID
1695:Masui
1600:Masui
1581:S2CID
1330:S2CID
1090:S2CID
902:S2CID
857:S2CID
442:S2CID
126:Cause
2986:PCNT
2708:LBR
2587:GFAP
2462:KRT8
2452:KRT5
2442:KRT4
2432:KRT3
2415:IHCM
2400:KRT1
2096:2053
2056:OMIM
2045:9-CM
2002:ISBN
1979:PMID
1962:JAMA
1942:PMID
1907:PMID
1872:PMID
1823:PMID
1796:PMID
1738:PMID
1703:PMID
1676:PMID
1635:PMID
1608:PMID
1573:PMID
1538:PMID
1497:PMID
1462:PMID
1427:PMID
1400:PMID
1365:PMID
1322:PMID
1287:PMID
1252:PMID
1225:PMID
1198:PMID
1149:PMID
1082:PMID
1041:PMID
992:PMID
956:PMID
929:PMID
894:PMID
849:PMID
814:PMID
787:PMID
760:PMID
710:PMID
660:PMID
624:PMID
559:ISBN
534:PMID
482:PMID
434:PMID
293:and
256:vein
254:and
221:and
136:gene
98:and
2906:GAN
2875:APC
2398:):
2377:1/2
2041:ICD
1971:doi
1967:293
1934:doi
1899:doi
1895:125
1862:PMC
1854:doi
1788:doi
1730:doi
1666:doi
1565:doi
1528:doi
1489:doi
1485:121
1454:doi
1392:doi
1388:121
1357:doi
1314:doi
1279:doi
1188:PMC
1180:doi
1141:doi
1074:doi
1031:PMC
1023:doi
984:doi
886:doi
841:doi
783:110
750:PMC
742:doi
700:PMC
692:doi
652:doi
614:PMC
524:PMC
516:doi
474:doi
426:doi
422:117
266:in
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