MEIRER-GORLIN SYNDROME: A PRIMORDIAL DWARFIC RARE CASE WITH GROWTH AND MENTAL RETARDATION IN NORMAL KARYOTYPE


Paksoy B., Silan F., Yildiz O., Ozdemir O., Tas Z. T.

GENETIC COUNSELING, cilt.27, ss.159-163, 2016 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 27 Konu: 2
  • Basım Tarihi: 2016
  • Dergi Adı: GENETIC COUNSELING
  • Sayfa Sayıları: ss.159-163

Özet

Meirer-Gorlin syndrome: a primordial dwarfic rare case with growth and mental retardation in normal karyotype: The Meier-Gorlin syndrome (MGS) / ear, patella, short stature syndrome (MIM 224690) is an autosomal recessive inherited disorder. Point mutations of ORC1, ORC4, ORC6, CDT1, and CDC6 genes that play crucial role in the origin recognition complex for DNA replication were reported in MGS. Here, we report a 9 years old boy with some clinical findings diagnosed as MGS. This case was the 4th child of a first degree relative couple and born with 3 kg weight in the 37th week of gestation (at the birth time mother was 29 and father was 39 years old). The case showed short stature, failure to thrive, microcephaly, micrognathia, mandibular hypoplasia, bilateral microtia, full lips, long eyelashes, mental retardation and hypoplastic patellas. He was evaluated as a normal chromosomal structure after lymphocyte cell culture and GTG-banding karyotype analysis (46,XY). The genetic counseling was given and he was followed for growth and mental retardation.