A MALE NEWBORN WITH SIMPSON-GOLABI-BEHMEL SYNDROME, PRESENTING WITH METOPIC SYNOSTOSIS, ANAL ATRESIA, AND TOTAL ANOMALOUS PULMONARY VENOUS RETURN


Demir N. , Peker E., Ece I., Kaba S., Dogan M., Tuncer O.

GENETIC COUNSELING, cilt.25, ss.439-443, 2014 (SCI İndekslerine Giren Dergi) identifier

  • Cilt numarası: 25 Konu: 4
  • Basım Tarihi: 2014
  • Dergi Adı: GENETIC COUNSELING
  • Sayfa Sayıları: ss.439-443

Özet

A male newborn with Simpson-Golabi-Behmel syndrome, presenting with metopic synostosis, anal atresia, and total anomalous pulmonary venous return: Simpson-Golabi-Behmel syndrome is a clinical condition described by Simpson, characterized with multiple congenital anomalies and caused by Glypican 3 (GPC3) mutations of the X-linked gene. Typical findings such as overgrowth, hypoplastic changes of hands and feet, visceromegaly, cleft palate and macrocephalic distinctive facial features and multiple organ anomalies might be observed. GPC3 mutation is claimed to generally cause metopic synostosis. This case was reported because even though a lot of anomalies accompanying Simpson-Golabi-Behmel syndrome had been noticed, combination of metopic synostosis, has not been reported before.