title: Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: description of a second patient and exclusion of HOXD13.
abstract: In 1988 Pfeiffer and Kapferer reported on a patient with sensorineural deafness, psychomotor delay, hypospadias, cerebral manifestations, and bilateral synostosis of the 4th and 5th metacarpals and metatarsals. Synostosis of the 4th and 5th metacarpals and metatarsals is a very rare defect that has been described as an isolated Mendelian defect, as part of multiple congenital anomaly (MCA) patterns, and in different syndromes. Among a total of 2,023,155 liveborn infants in the Spanish Collaborative Study of Congenital Malformations (ECEMC), we observed only two cases with this type of metacarpal fusion, for a frequency of 1/1,011,577. One had the isolated defect, and the other one that we are describing here, had an MCA pattern similar to that described by Pfeiffer and Kapferer [1988]. We tested HOXD13 but did not find any mutations in exons and intron-exon boundaries. To our knowledge this case is the second one reported with this syndrome.
authors.affiliation: Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain. jacobo.mendioroz@isciii.es
authors.forename: Jacobo
authors.initials: J
authors.lastname: Mendioroz
authors.forename: Joaquín
authors.initials: J
authors.lastname: Fernández-Toral
authors.forename: Etelvina
authors.initials: E
authors.lastname: Suárez
authors.forename: Fermina
authors.initials: F
authors.lastname: López-Grondona
authors.forename: Klaus W
authors.initials: KW
authors.lastname: Kjaer
authors.forename: Eva
authors.initials: E
authors.lastname: Bermejo
authors.forename: María Luisa
authors.initials: ML
authors.lastname: Martínez-Frías
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities*; D006319:Hearing Loss, Sensorineural / Q000473:pathology*; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000473:pathology*; D008663:Metacarpus / Q000002:abnormalities; D008682:Metatarsal Bones / Q000002:abnormalities; D009154:Mutation; D013577:Syndrome; D013580:Synostosis / Q000473:pathology*; D014157:Transcription Factors / Q000235:genetics
chemical_list: C513184:HOXD13 protein, human; D018398:Homeodomain Proteins; D014157:Transcription Factors