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Abstract Ref Number = APCP996
Poster Presentation
A RARE GENETIC DISORDER OF APERT SYNDROME IN DIZYGOTIC TWIN NEONATE
Monika Ramadhan,Anindita Laksmi,Sri Hudaya Widihastha
Puskesmas Senaru North Lombok Harapan Keluarga Hospital Sumedang
Background : Apert syndrome is a rare genetic disorder form of acrocephalosyndactyly. We report a case of neonate with congenital deformity who was born to dizygotic male twin.
Case Presentation Summary : A dizygotic male twin was born by vaginal delivery in Puskesmas Senaru, Indonesia. As multiple pregnancy and congenital malformation were remained unknown until delivery, it was reported that one of the infants presented with prominent forehead with proptosis eyes, low set ears, high arched palate, and bilateral syndactyly of four limbs. There was no similar history recorded within their family. Both of their parents were in the third decade of life and have a consanguineous marriage. X-ray and CT Scan were performed and bilateral synostosis of coronal and lambdoid sutures, soft tissue syndactyly of both hands and feet, fusion of first to third distal phalanges of right hand, fusion of third and fourth distal phalanges of left hand were reported.
Learning Points/Discussion : Apert Syndrome is characterized by acrocephaly and syndactyly of limbs. Early craniosynostosis of coronal sutures leading to an acrocephalic head. Craniosynostosis developed from autosomal dominant mutation of FGFR-2 in cranial suture chondrocytes, common found in male germ line and associated with paternal age. Other craniofacial manifestations include midface hypoplasia, ocular proptosis, hypertelorism and dental malocclusion. Digital manifestations include distal fusion of commonly the second to fourth digits of the hands. Prompt recognition of this congenital anomaly will reduce morbidity as proper treatment can be given earlier.
Keywords: Apert Syndrome congenital deformity genetic disorder neonatology
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