Open and Closed Lip Schizencephaly in Seckel Syndrome: A Case Report

Abstract

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.

Keywords

Septum pellucidum seckel syndrome schizencephaly consanguinity

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References

Seckel HPG. Bird-headed dwarfs. Springfield, IL: Charles C Thomas; 1960:241.

Majewski F. , Goecke T. Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome. Am J Med Genet. 1982 ;12(1):7-21.

McKusick VA , Mahloudji M. , Abbott MH , Lindenberg R. , Kepas D. Seckel’s bird-headed dwarfism. N Engl J Med . 1967; 277(6):279-286.

Hori A. , Tamagawa K. , Eber SW , Westmeier M. , Hansmann I. Neuropathology of Seckel syndrome in a fetal stage with evidence of intrauterine developmental retardation. Acta Neuropathol. 1987; 74(4):397-401.

Thapa R. , Mukherjee K. Seckel syndrome with asymptomatic tonsillar herniation and congenital mirror movements. J Child Neurol. 2009. [Epub ahead of print].

Krishna AG , Scrimgeour EM , Zawawi TH Seckel syndrome in a Yemeni family in Saudi Arabia. Am J Med Genet. 1994;51(3): 224-227.

Rodríguez JI , Regadera JF , Morales C. , Perera A. Nuevos hallazgos en el síndrome de Seckel. Su consideración como una condrodisplasia . An Esp Pediatr. 1982;16(5):406-415.

Sugio Y. , Tsukahara M. , Kajii T. Two Japanese cases with microcephalic primordial dwarfism: classical Seckel syndrome and osteodysplastic primordial dwarfism type II. Jpn J Hum Genet. 1993;38(2):209-217.

Shanske A. , Caride DG , Menasse-Palmer L. , Bogdanow A. , Marion RW Central nervous system anomalies in Seckel syndrome: report of a new family and a review of the literature. Am J Med Genet. 1997;70(2):155-158.

10.

Arnold SR , Spicer D. , Kouseff B. , Lacson A. , Gilbert-Barness E. Seckel-like syndrome in three siblings. Pediatr Dev Pathol . 1999;2(2):180-187.

11.

Howanietz H. , Frisch H. , Jedlicka-Kohler I. , Steger H. Seckel dwarfism based on a personal observation. Klin Padiatr. 1989; 201(2):139-141.

12.

Capovilla G. , Lorenzetti ME , Montagnini A. , et al. Seckel’s syndrome and malformations of cortical development: report of three new cases and review of the literature . J Child Neurol. 2001; 16(5):382-386.

13.

Kumar R. , Rawal M. , Agarwal S. , Gathwala G. Semilobar holoprosencephaly in Seckel syndrome. Indian J Pediatr . 2008; 75(5): 519-520.

14.

Alderton GK , Joenje H. , Varon R. , Børglum AD , Jeggo PA , O’Driscoll M. Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway. Hum Mol Genet. 2004;13(24):3127-3138.

15.

Brown E. , Baltimore D. Essential and dispensable roles of ATR in cell cycle arrest and genome maintenance . Genes Dev. 2003; 17(5):615-628.