title: Gómez-López-Hernández syndrome in a child born to consanguineous parents: new evidence for an autosomal-recessive pattern of inheritance?
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Vinicius Freitas
authors.initials: VF
authors.lastname: de Mattos
authors.affiliation: Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, Rio Grande do Sul, Brazil; Postgraduate Program in Pathology, UFCSPA, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Carla
authors.initials: C
authors.lastname: Graziadio
authors.affiliation: Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, Rio Grande do Sul, Brazil; Postgraduate Program in Pathology, UFCSPA, Porto Alegre, Rio Grande do Sul, Brazil; Clinical Genetics, Hospital Materno Infantil Presidente Vargas (HMIPV), Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Rafael Fabiano
authors.initials: RF
authors.lastname: Machado Rosa
authors.affiliation: Radiology Service, CHSCPA, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Rene
authors.initials: R
authors.lastname: Lenhardt
authors.affiliation: Radiology Service, CHSCPA, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Ronnie Peterson Marcondes
authors.initials: RP
authors.lastname: Alves
authors.affiliation: Postgraduate Program in Pathology, UFCSPA, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Patrícia
authors.initials: P
authors.lastname: Trevisan
authors.affiliation: Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, Rio Grande do Sul, Brazil; Postgraduate Program in Pathology, UFCSPA, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Giorgio Adriano
authors.initials: GA
authors.lastname: Paskulin
authors.affiliation: Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, Rio Grande do Sul, Brazil; Postgraduate Program in Pathology, UFCSPA, Porto Alegre, Rio Grande do Sul, Brazil. Electronic address: paulozen@ufcspa.edu.br.
authors.forename: Paulo Ricardo Gazzola
authors.initials: PR
authors.lastname: Zen
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D000505:Alopecia / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000473:pathology; D002531:Cerebellum / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D003241:Consanguinity; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D005808:Genes, Recessive; D006130:Growth Disorders / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D006801:Humans; D021621:Imaging, Three-Dimensional; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D020752:Neurocutaneous Syndromes / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D012249:Rhombencephalon / Q000000981:diagnostic imaging / Q000473:pathology; D012886:Skull / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed
keywords: Gómez-López-Hernández syndrome; alopecia; cerebello-trigeminal-dermal dysplasia; consanguinity; craniosynostosis; genetic counseling; rhombencephalosynapsis