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

Jacobo Mendioroz; Joaquín Fernández-Toral; Etelvina Suárez; Fermina López-Grondona; Klaus Wilbrandt Kjær; Eva Bermejo; María Luisa Martínez-Frías

doi:10.1002/ajmg.a.30728

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

Jacobo Mendioroz, Joaquín Fernández-Toral, Etelvina Suárez, Fermina López-Grondona, Klaus Wilbrandt Kjær, Eva Bermejo, María Luisa Martínez-Frías

Department of Cellular and Molecular Medicine

2 Citations (Scopus)

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.

Original language	English
Journal	American Journal of Medical Genetics. Part A
Volume	135
Issue number	2
Pages (from-to)	211-3
Number of pages	3
ISSN	1552-4825
DOIs	https://doi.org/10.1002/ajmg.a.30728
Publication status	Published - 2005

Keywords

Abnormalities, Multiple
Child, Preschool
DNA Mutational Analysis
Female
Genitalia, Female
Hearing Loss, Sensorineural
Homeodomain Proteins
Humans
Infant
Intellectual Disability
Metacarpus
Metatarsal Bones
Mutation
Syndrome
Synostosis
Transcription Factors

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Mendioroz, J., Fernández-Toral, J., Suárez, E., López-Grondona, F., Kjær, K. W., Bermejo, E., & Martínez-Frías, M. L. (2005). Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: description of a second patient and exclusion of HOXD13. American Journal of Medical Genetics. Part A, 135(2), 211-3. https://doi.org/10.1002/ajmg.a.30728

Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: description of a second patient and exclusion of HOXD13. / Mendioroz, Jacobo; Fernández-Toral, Joaquín; Suárez, Etelvina et al.
In: American Journal of Medical Genetics. Part A, Vol. 135, No. 2, 2005, p. 211-3.

Research output: Contribution to journal › Journal article › Research › peer-review

Mendioroz, J, Fernández-Toral, J, Suárez, E, López-Grondona, F, Kjær, KW, Bermejo, E & Martínez-Frías, ML 2005, 'Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: description of a second patient and exclusion of HOXD13', American Journal of Medical Genetics. Part A, vol. 135, no. 2, pp. 211-3. https://doi.org/10.1002/ajmg.a.30728

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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.",

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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

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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.

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KW - Intellectual Disability

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KW - Metatarsal Bones

KW - Mutation

KW - Syndrome

KW - Synostosis

KW - Transcription Factors

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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

Keywords

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