Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union

American Journal of Medical Genetics, Part A

Volumn 143, Issue 24, 2007, Pages 3295-3301

  Zechi Ceide, Roseli Maria ^a   Guion Almeida, Maria Leine ^a   Zanchetta, Sthella ^a   Richieri Costa, Antonio ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Abnormal nares; Autosomal recessive inheritance; Broad nose and nasal root; Dandy Walker variant; Ear anomalies; Grooved nasal tip; Hypoplastic cerebellar vermis; Hypoplastic fingernails and toenails; Mental retardation; Midface deficiency; Oligodontia

Indexed keywords

CASE REPORT; CEREBELLUM HYPOPLASIA; CEREBELLUM VERMIS; CLINICAL FEATURE; CONDUCTION DEAFNESS; CONFERENCE PAPER; CONSANGUINITY; DANDY WALKER SYNDROME; ENCEPHALOCELE; FACE MALFORMATION; FOOT MALFORMATION; GENETIC DISORDER; HUMAN; MALE; MENTAL DEFICIENCY; OCCIPITAL ATRETIC CEPHALOCELE; PHENOTYPE; PRIORITY JOURNAL; PURE TONE AUDIOMETRY; SCHOOL CHILD; SIBLING; TYMPANOMETRY;

ABNORMALITIES, MULTIPLE; ADOLESCENT; BRAIN; CHILD; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; DANDY-WALKER SYNDROME; EAR; FACE; FACIES; FEMALE; FOOT; GENES, RECESSIVE; HUMANS; MALE; MENTAL RETARDATION; PHENOTYPE;

EID: 37249027238     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32019     Document Type: Conference Paper

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