Open and closed lip schizencephaly in Seckel syndrome: a case report.
Seckel syndrome (Online Mendelian Inheritance in Man database Number 210600) is the classic prototype of primordial bird-headed dwarfism. In addition to the characteristic craniofacial dysmorphism and skeletal defects, abnormalities of the cardiovascular, hematopoietic, endocrine, and central nervous systems are described. The full phenotypic spectrum of this clinically and genetically heterogeneous syndrome is yet to be delineated. Presented herein is a boy 2 years and 5 months old, with Seckel syndrome, born to second-degree consanguineous Muslim parents. In addition to the classic phenotype of the disorder, this patient had both, an open and a closed lip schizencephaly detected on cranial computed tomography (CT) scan. To our knowledge, the association of schizencephaly and Seckel syndrome is not described previously in the English language literature. In addition, presented briefly is a review of the anatomical cerebral cortical malformations associated with this syndrome.
Thapa
Rajoo
R
Department of Pediatrics The Institute of Child Health, Kolkata, West Bengal, India. rajoothapa@yahoo.co.in
Mallick
Debkrishna
D
Biswas
Biswajit
B
Ghosh
Apurba
A
D001921:Brain / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002540:Cerebral Cortex / Q000002:abnormalities / Q000000981:diagnostic imaging; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000235:genetics; D004392:Dwarfism / Q000150:complications* / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008297:Male; D054220:Malformations of Cortical Development / Q000150:complications* / Q000235:genetics / Q000473:pathology*; D008831:Microcephaly / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D009139:Musculoskeletal Abnormalities / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D013577:Syndrome; D014057:Tomography, X-Ray Computed