Carpenter syndrome: Report of two siblings

Işlek I., Küçüködük S., İncesu L., Selçuk M., AYGÜN D.

Clinical Dysmorphology, cilt.7, sa.3, ss.185-189, 1998 (SCI-Expanded, Scopus) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 7 Sayı: 3
  • Basım Tarihi: 1998
  • Doi Numarası: 10.1097/00019605-199807000-00005
  • Dergi Adı: Clinical Dysmorphology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.185-189
  • Anahtar Kelimeler: Acrocephalopolysyndactyly, Carpenter syndrome, Cerebrospinal malformations
  • Ondokuz Mayıs Üniversitesi Adresli: Evet

Özet

Carpenter syndrome consists of acrocephaly, soft tissue syndactyly, short fingers, preaxial polydactyly, congenital heart disease, hypogenitalism, cryptorchidism, obesity, umbilical hernia and mental retardation. Here we report two affected sibs (IQs were 80 and 93) presenting various cerebrospinal malformations, ie frontal lobe deformity, narrowed foramen magnum, hypoplastic posterior fossa, kinked spinal cord, and syrinx cavitation demonstrated by magnetic resonance imaging.