The Antley-Bixler syndrome: report of two familial cases with severe renal and anal anomalies.
The Antley-Bixler syndrome is characterized by premature closure of coronal and lambdoidal sutures, proptosis, depression of the nasal bridge, brachycephaly, radio-humeral synostosis and bowing of ulnae and femora associated with fractures. Most cases have been reported after birth with only one case diagnosed prenatally after recurrence of this autosomal recessive syndrome. The two present cases are of interest because of prenatal diagnosis of renal agenesis in the first case and early detection of clinical signs during the second pregnancy. Beside the unusual severity of the renal abnormalities, both cases had an imperforate anus in addition to the more common genital abnormalities.


CONCLUSIONS
Renal agenesis and imperforate anus may occur in the Antley-Bixler syndrome.
LeHeup
B P
BP
Laboratoire d'Histologie et Embryologie, Vandoeuvre les Nancy, France.
Masutti
J P
JP
Droullé
P
P
Tisserand
J
J
D000015:Abnormalities, Multiple; D000328:Adult; D001006:Anus, Imperforate; D001842:Bone and Bones / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities; D005260:Female; D005269:Femur / Q000002:abnormalities; D006801:Humans; D006811:Humerus / Q000002:abnormalities; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D011884:Radius / Q000002:abnormalities; D012886:Skull / Q000002:abnormalities; D013580:Synostosis / Q000150:complications; D014564:Urogenital Abnormalities