Extending the overlap of three congenital overgrowth syndromes.
We present the case of a male infant, born prematurely (at 33 weeks gestation) with macrosomia, disproportionate macrocephaly, facial dysmorphism, short penis and a small umbilical defect. He had a large ASD and was ventilated from birth for respiratory distress syndrome. He died at 12 hours of age despite neonatal ITU care. Post-mortem examination showed highly lobulated kidneys with nodules of blastema and foci of hamartomatous change in the medulla. Prominence of pancreatic islet cells and expansion of hepatic portal tracts were also noted. His mother has minor cervical spine abnormalities. We discuss the differential diagnosis and the difficulty in confidently assigning a diagnosis to this patient, as considerable overlap is becoming evident between Simpson-Golabi-Behmel syndrome and Perlman syndrome.
Coppin
B
B
Wessex Clinical Genetics Service, The Princess Anne Hospital, Southampton, UK.
Moore
I
I
Hatchwell
E
E
D000015:Abnormalities, Multiple / Q000235:genetics*; D001506:Beckwith-Wiedemann Syndrome / Q000209:etiology*; D002880:Chromosomes, Human, Pair 11; D005145:Face / Q000002:abnormalities; D005260:Female; D053673:Glypicans; D006130:Growth Disorders / Q000235:genetics*; D006344:Heart Septal Defects, Atrial / Q000209:etiology; D019812:Heparan Sulfate Proteoglycans; D006497:Heparan Sulfate / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000473:pathology; D008099:Liver / Q000473:pathology; D008297:Male; D010179:Pancreas / Q000473:pathology; D011247:Pregnancy; D011509:Proteoglycans / Q000235:genetics; D013577:Syndrome
D053673:Glypicans; D019812:Heparan Sulfate Proteoglycans; D006497:Heparan Sulfate; D011509:Proteoglycans