TY - JOUR
T1 - Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation
T2 - description of a second patient and exclusion of HOXD13
AU - Mendioroz, Jacobo
AU - Fernández-Toral, Joaquín
AU - Suárez, Etelvina
AU - López-Grondona, Fermina
AU - Kjær, Klaus Wilbrandt
AU - Bermejo, Eva
AU - Martínez-Frías, María Luisa
N1 - Copyright (c) 2005 Wiley-Liss, Inc.
PY - 2005
Y1 - 2005
N2 - 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.
AB - 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.
KW - Abnormalities, Multiple
KW - Child, Preschool
KW - DNA Mutational Analysis
KW - Female
KW - Genitalia, Female
KW - Hearing Loss, Sensorineural
KW - Homeodomain Proteins
KW - Humans
KW - Infant
KW - Intellectual Disability
KW - Metacarpus
KW - Metatarsal Bones
KW - Mutation
KW - Syndrome
KW - Synostosis
KW - Transcription Factors
U2 - 10.1002/ajmg.a.30728
DO - 10.1002/ajmg.a.30728
M3 - Journal article
C2 - 15887301
SN - 1552-4825
VL - 135
SP - 211
EP - 213
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 2
ER -