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At least 523 records · Page 29Linked to original sources
PubMed1993

Familial segregation of cervical ribs, Sprengel anomaly, preaxial polydactyly, anal atresia, and urethral obstruction: a new syndrome?

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.

Abnormalities, Multiple↗
PubMed1993

Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly.

We report on a boy with several findings of the Meckel syndrome, such as hepatic fibrosis, polycystic kidneys, post-axial hexadactyly, and genital abnormalities, but a Dandy-Walker malformation rather an occipital meningocele. Progressive deterioration of renal function beginning at 37 months led to death at 43 months. Both Dandy-Walker malformation and survival to the fourth year are unusual findings in Meckel syndrome. This uncommon combination represents a further demonstration of the pleiotropy/heterogeneity of the cerebro-reno-digital syndromes.

Abnormalities, Multiple↗
PubMed1992

Contrast arthrography in thumb polydactyly with variable morphological patterns.

Contrast arthrography was performed in 20 patients with duplicated thumbs where the interphalangeal, metacarpophalangeal, and carpometacarpal joints were involved. Three groups were apparent, those with no joint alteration, those with joint involvement and separate articular impressions, and those with abnormal duplex joints.

Arthrography↗