English Journal

A case of a four-day-old male with Carpenter's syndrome with transposition of great arteries.

Balci S, Haytoğlu T, Ozer S.Author information Department of Pediatrics, Hacettepe University, Faculty of Medicine, Ankara.AbstractCarpenter's syndrome (acrocephalopolysyndactyly type II) is an autosomal recessive syndrome characterized by peculiar facies, synbrachydactyly on fingers and preaxial polysyndactyly on feet. To our knowledge there are about 40 reported cases of Carpenter's syndrome in the literature. Congenital heart disease is an uncommon entity in Carpenter's syndrome. In the case we present, transposition of great arteries, subpulmonic ventricular septal defect (VSD) and secundum atrial septal defect (ASD) were diagnosed with echocardiographic examination. Therefore, a cardiologic examination should be done in every newly diagnosed case of Carpenter's syndrome for possible heart defect. Early fatality is seen in Carpenter's syndrome cases associated with congenital heart disease. This is particularly important from the genetic counselling point of view.
The Turkish journal of pediatrics.Turk J Pediatr.1998 Jul-Sep;40(3):461-6.
Carpenter's syndrome (acrocephalopolysyndactyly type II) is an autosomal recessive syndrome characterized by peculiar facies, synbrachydactyly on fingers and preaxial polysyndactyly on feet. To our knowledge there are about 40 reported cases of Carpenter's syndrome in the literature. Congenital hear
PMID 9763914

[Clinical and roentgenological study of the hands in synbrachydactyly, constriction band syndrome and cleft hand complex].

Tanabu S.AbstractOne hundred and six cases of synbrachydactyly, 63 cases of constriction band syndrome and 69 cases of cleft hand complex were clinically and roentgenologically studied and the following results were obtained. Synbrachydactyly is a group of hand anomalies in which the bone reduction appears transversely, and its severest form is a hand missing all the hand bones and the distal portion of the forearm, and with rudimentary digits on the stump. The association of dermal syndactyly or pectoralis muscle defect frequently seen in the milder cases of synbrachydactyly would be a secondary change to mesodermal hypoplasia or a related, but isolated malformation. Cleft hand complex which includes ordinary cleft hand, central ray polydactyly and central ray osseous syndactyly is a group of hand anomalies basically due to an ectodermal abnormality of separation of the digits. However, it is frequently associated with mesodermal hypoplasia or defect of various severity. The hand malformation in constriction band syndrome has a definite characteristic that the area of bone reduction is limited in phalanges.
Nihon Seikeigeka Gakkai zasshi.Nihon Seikeigeka Gakkai Zasshi.1985 Feb;59(2):167-82.
One hundred and six cases of synbrachydactyly, 63 cases of constriction band syndrome and 69 cases of cleft hand complex were clinically and roentgenologically studied and the following results were obtained. Synbrachydactyly is a group of hand anomalies in which the bone reduction appears transvers
PMID 2991398

A partial long arm deletion of chromosome 7:46,XY,del(7)(q32).

Kousseff BG, Hsu LY, Paciuc S, Hirschhorn K.AbstractWe have identified a partial deletion of the long arm of chromosome 7 in a newborn baby boy. His major anomalies were microcephaly, synbrachydactyly, diastisis recti, hypospadias, short neck, and widely spaced nipples.
Journal of medical genetics.J Med Genet.1977 Apr;14(2):144-7.
We have identified a partial deletion of the long arm of chromosome 7 in a newborn baby boy. His major anomalies were microcephaly, synbrachydactyly, diastisis recti, hypospadias, short neck, and widely spaced nipples.
PMID 192866

Japanese Journal

合短指症の治療における骨延長の経験

日本手の外科学会雑誌 = The Journal of Japanese Society for Surgery of the Hand 16(6), 793-796, 2000-02-29
NAID 10008583573

シリコンブロックを一時的に応用した小児の手足の再建術

中国・四国整形外科学会雑誌 10(1), 61-64, 1998
NAID 130003625194

手先天異常分類上の疑義(synbrachydactylyを中心として)

先天異常 : 日本先天異常学会会報 : official journal of Congeital Anomalies Research Association of Japan 11(3), 133, 1971-09-30
NAID 110002728870

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