Familial segregation of cervical ribs, Sprengel anomaly, preaxial polydactyly, anal atresia, and urethral obstruction: a new syndrome?
Am J Med Genet
; 45(6): 717-20, 1993 Mar 15.
Article
em En
| MEDLINE
| ID: mdl-8456850
ABSTRACT
In a consanguineous Jewish family originating from Bombay, India, the propositus presented with anal atresia, micropenis, urethral obstruction with secondary prune belly, omphalocele, patent urachus, and cryptorchidism. The kidneys were dysplastic and he had the Potter phenotype with limb deformities. Additional findings included IUGR with microcephaly, congenital heart defects, spinal anomalies, and hypoplastic lungs. The mother and all three sisters had cervical ribs, and she and one sister had 11 pairs of thoracic ribs. The other two sisters had chronic immune thrombopenia. One of those had bilateral Sprengel deformity with homovertebral bones, club feet, and microcephaly and the other sister also had unilateral preaxial hexadactyly. Although familial segregation of cervical ribs and Sprengel deformity has been reported, the association of the findings in this family is unique and may represent a new syndrome. X-linked dominant transmission may explain the severe manifestations in the affected male, but other modes of inheritance may also apply.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anus Imperfurado
/
Costelas
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Obstrução Uretral
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Anormalidades Múltiplas
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Deformidades Congênitas dos Membros
Limite:
Child, preschool
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Female
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Humans
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Male
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Newborn
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1993
Tipo de documento:
Article
País de afiliação:
Israel