Acro-spondylo-pubic dysostosis associated with cataracts, microcephaly and normal intelligence

Oscar F. Chacon-Camacho; Vanessa Villegas-Ruiz; Beatriz Buentello-Volante; Raul E Pina-Aguilar; Hugo Peláez-González; Magdalena Ramírez; Johanna González-Rodríguez; Juan Carlos Zenteno

doi:10.1002/ajmg.a.36851

Acro-spondylo-pubic dysostosis associated with cataracts, microcephaly and normal intelligence

Oscar F. Chacon-Camacho, Vanessa Villegas-Ruiz, Beatriz Buentello-Volante, Raul E Pina-Aguilar, Hugo Peláez-González, Magdalena Ramírez, Johanna González-Rodríguez, Juan Carlos Zenteno^*

^*Corresponding author for this work

Medical Sciences

Research output: Contribution to journal › Article › peer-review

5 Citations (Scopus)

Abstract

We report on an adult male with normal intelligence who exhibited an unusual combination of microcephaly, dysostoses of limbs, vertebrae, patellae, and pubic bone, camptodactyly of all fingers, and syndactyly of toes, absent nails on thumbs and some fingers, bilateral cataract, cryptorchidism, polythelia, and nipple-like skin pigmentations of shoulders and upper back. We have been unable to find a description of a similar combination of manifestations in literature. The cause of the anomalies remains unknown.

Original language	English
Pages (from-to)	282-286
Number of pages	5
Journal	American Journal of Medical Genetics. Part A
Volume	167
Issue number	2
Early online date	26 Nov 2014
DOIs	https://doi.org/10.1002/ajmg.a.36851
Publication status	Published - Feb 2015

Bibliographical note

We would like to thank Dr. Juan Manuel Valde´s and Dr. Heraclio Gutierrez for their support in the conventional karyotype analysis and Dr. Sara Frias-Vazquez and Dr. Leda Torres-Maldonado for their help at molecular karyotyping procedures.

Keywords

Abnormal metacarpals
Absent nails
Absent patella
Absent pubic ramus
Agenesis of fingers
Camptodactyly
Cataract
Dysostosis
Polythelia
Syndactyly

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title = "Acro-spondylo-pubic dysostosis associated with cataracts, microcephaly and normal intelligence",

abstract = "We report on an adult male with normal intelligence who exhibited an unusual combination of microcephaly, dysostoses of limbs, vertebrae, patellae, and pubic bone, camptodactyly of all fingers, and syndactyly of toes, absent nails on thumbs and some fingers, bilateral cataract, cryptorchidism, polythelia, and nipple-like skin pigmentations of shoulders and upper back. We have been unable to find a description of a similar combination of manifestations in literature. The cause of the anomalies remains unknown.",

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note = "We would like to thank Dr. Juan Manuel Valde´s and Dr. Heraclio Gutierrez for their support in the conventional karyotype analysis and Dr. Sara Frias-Vazquez and Dr. Leda Torres-Maldonado for their help at molecular karyotyping procedures.",

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AU - Chacon-Camacho, Oscar F.

AU - Villegas-Ruiz, Vanessa

AU - Buentello-Volante, Beatriz

AU - Pina-Aguilar, Raul E

AU - Peláez-González, Hugo

AU - Ramírez, Magdalena

AU - González-Rodríguez, Johanna

AU - Zenteno, Juan Carlos

N1 - We would like to thank Dr. Juan Manuel Valde´s and Dr. Heraclio Gutierrez for their support in the conventional karyotype analysis and Dr. Sara Frias-Vazquez and Dr. Leda Torres-Maldonado for their help at molecular karyotyping procedures.

PY - 2015/2

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N2 - We report on an adult male with normal intelligence who exhibited an unusual combination of microcephaly, dysostoses of limbs, vertebrae, patellae, and pubic bone, camptodactyly of all fingers, and syndactyly of toes, absent nails on thumbs and some fingers, bilateral cataract, cryptorchidism, polythelia, and nipple-like skin pigmentations of shoulders and upper back. We have been unable to find a description of a similar combination of manifestations in literature. The cause of the anomalies remains unknown.

AB - We report on an adult male with normal intelligence who exhibited an unusual combination of microcephaly, dysostoses of limbs, vertebrae, patellae, and pubic bone, camptodactyly of all fingers, and syndactyly of toes, absent nails on thumbs and some fingers, bilateral cataract, cryptorchidism, polythelia, and nipple-like skin pigmentations of shoulders and upper back. We have been unable to find a description of a similar combination of manifestations in literature. The cause of the anomalies remains unknown.

KW - Abnormal metacarpals

KW - Absent nails

KW - Absent patella

KW - Absent pubic ramus

KW - Agenesis of fingers

KW - Camptodactyly

KW - Cataract

KW - Dysostosis

KW - Polythelia

KW - Syndactyly

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DO - 10.1002/ajmg.a.36851

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AN - SCOPUS:84921329902

SN - 1552-4825

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EP - 286

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

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ER -

Acro-spondylo-pubic dysostosis associated with cataracts, microcephaly and normal intelligence

Abstract

Bibliographical note

Keywords

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