In:
American Journal of Medical Genetics, Wiley, Vol. 26, No. 1 ( 1987-01), p. 59-64
Abstract:
We report on two sib fetuses with similar abnormalities detected prenatally by ultrasound. The first fetus had micrognathia, was without cleft palate, and had low‐set ears, double outlet right ventricle with a ventricular septal defect, and 46,XY gonadal dysgenesis. The second sib fetus was born with cleft lip and palate, micrognathia, transposition of the great vessels, ventricular seplal defect, a right‐sided aorta arch, and bilateral cystic kidneys with hypospadias. We were able to identify 11 additional cases in the literature with similar findings. We think this set of defects is a recognizable syndrome that appears to be inherited either as an autosomal recessive or as an X‐linked recessive and may overlap with the Smith‐Lemli‐Opitz syndrome.
Type of Medium:
Online Resource
ISSN:
0148-7299
,
1096-8628
DOI:
10.1002/ajmg.1320260111
Language:
English
Publisher:
Wiley
Publication Date:
1987
detail.hit.zdb_id:
2143866-3
detail.hit.zdb_id:
2143867-5
detail.hit.zdb_id:
1493479-6
detail.hit.zdb_id:
2205916-7
SSG:
12
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