Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: Description of a second patient and exclusion of HOXD13

✍ Scribed by Jacobo Mendioroz; Joaquín Fernández-Toral; Etelvina Suárez; Fermina López-Grondona; Klaus W. Kjaer; Eva Bermejo; María Luisa Martínez-Frías

• Publisher: John Wiley and Sons
• Year: 2005
• Tongue: English
• Weight: 108 KB
• Volume: 135A
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.30728

✦ Synopsis

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. © 2005 Wiley‐Liss, Inc.