Phenotypically normal girl with male pseudohermaphroditism, hypoplastic left ventricle, lung aplasia, horseshoe kidney, and diaphragmatic hernia
✍ Scribed by Maaswinkel-Mooij, P. D. ;Brantsma, W. H. Stokvis
- Book ID
- 101443612
- Publisher
- John Wiley and Sons
- Year
- 1992
- Tongue
- English
- Weight
- 116 KB
- Volume
- 42
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
KEY WORDS heart malformation, sex reversal, heart valve atresia
THE SYNDROME First child of healthy unrelated parents. Family history unremarkable; pregnancy uneventful. Born at 36 weeks, BW 1920 g (3rd percentile), Apgar score 5 at 1 minute, 6 at 5 minutes; persistent tachypnea and cyanosis.
Examination
No apparent minor anomalies; bilateral simian creases; external genitalia considered normal female. Loud systolic murmur; echocardiography showed hypoplastic left ventricle. Died at age 4 days.
Chromosome Analysis
G-binding: apparently normal 46,XY.
Postmortem Investigation
Hypoplastic left heart with atresia of the mitral and aortic valves; persistent left superior vena cava; hypoplasia of the ascending aorta; aplasia of the left lung; agenesis of the right umbilical artery with asymmetric aorta bifurcation; liver placed in right thoracic cavity through muscular defect in the diaphragm; spleen adherent to liver; extra spleen; spleen tissue present in tail of pancreas; no giant cells in pancreas; horseshoe kidney; mild clitoromegaly; bicornuate uterus with blindending uterus horn and tube on the right side, and almost normal tube on the left with thin end in the uterus; right gonad microscopically testis tissue with