G贸mez-L贸pez-Hern谩ndez Syndrome in a Child Born to Consanguineous Parents: New Evidence for an Autosomal-Recessive Pattern of Inheritance?

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• 作者：Vinicius Freitas de Mattos ; MD^a ; Carla Graziadio ; MD^a ; ^b ; Rafael Fabiano Machado Rosa ; PhD^a ; ^b ; ^c ; Rene Lenhardt ; MD^d ; Ronnie Peterson Marcondes Alves ; MD^d ; Patr&iacute ; cia Trevisan ; MPharm^b ; Giorgio Adriano Paskulin ; PhD^a ; ^b ; Paulo Ricardo Gazzola Zen ; PhD^a ; ^b ; ^{paulozen@ufcspa.edu.br" class="auth_mail}
• 关键词：G&oacute ; mez-L&oacute ; pez-Hern&aacute ; ndez syndrome ; rhombencephalosynapsis ; alopecia ; craniosynostosis ; consanguinity ; cerebello-trigeminal-dermal dysplasia ; genetic counseling
• 刊名：Pediatric Neurology
• 出版年：June 2014
• 年：2014
• 卷：50
• 期：6
• 页码：612-615
• 全文大小：694 K

文摘

Gómez-López-Hernández syndrome is a rare genetic disease characterized by scalp alopecia with trigeminal anesthesia, brachycephaly or turribrachycephaly, midface retrusion, and rhombencephalosynapsis. We report the second case with this condition who presented with consanguineous parents.

absSec_2">Patient

abspara0015">This boy was evaluated shortly after birth because of suspected craniosynostosis. He was the only son of healthy, consanguineous parents (his maternal grandmother and his paternal great-grandfather were siblings). His examination was notable for turribrachycephaly, prominent forehead, bilateral parietotemporal alopecia, midfacial retrusion, anteverted nostrils, micrognathia, low-set and posteriorly rotated ears, and short neck with redundant skin. Radiographs and tridimensional computed tomography scan of skull revealed lambdoid craniosynostosis. Brain magnetic resonance imaging revealed complete rhombencephalosynapsis, aqueductal stenosis, fused colliculi, abnormal superior cerebellar penducle, mild ventriculomegaly, and dysgenesis of the corpus callosum.

absSec_3">Conclusions

abspara0020">Since its first description, 34 patients with this condition have been reported. The etiology of Gómez-López-Hernández syndrome is unknown. However, it is noteworthy that the patient in this report presented with a family history of consanguinity because this finding reinforces the possibility of an autosomal-recessive inheritance for this condition.