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Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome.
Am J Med Genet. 2000 Sep 11; 94(2):102-12.AJ

Abstract

We describe a new syndrome of distal limb anomalies and pigmentary skin defects in 10 females of a large, four-generation pedigree. The family was ascertained through a 4-month-old infant girl with multiple anomalies, including hypertelorism, iris colobomas, low-set ears, midface hypoplasia, punched-out pigmentary abnormalities over the face and scalp, generalized brachydactyly, and digital fibromatosis. No affected males were identified in this pedigree. Affected females had a lower than normal male-to-female ratio of liveborn offspring, and some of them also had a history of several miscarriages. These findings, together with a significant variability in the phenotype of the affected females, suggest that this condition is inherited in an X-linked dominant fashion, with prenatal male lethality, and that X-inactivation plays an important role in the phenotypic expression of the disease. The syndrome has been described twice in the literature, but only in sporadic cases; it was therefore not recognized as a mendelian entity. Because the most consistent findings are anomalies of the distal skeleton of the limbs and localized pigmentary abnormalities of the skin, we named the syndrome "terminal osseous dysplasia with pigmentary defects." This condition, though rare, can be added to the small group of male lethal X-linked dominant disorders in humans.

Authors+Show Affiliations

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA. cbacino@bcm.tmc.eduNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

10982966

Citation

Bacino, C A., et al. "Terminal Osseous Dysplasia and Pigmentary Defects: Clinical Characterization of a Novel Male Lethal X-linked Syndrome." American Journal of Medical Genetics, vol. 94, no. 2, 2000, pp. 102-12.
Bacino CA, Stockton DW, Sierra RA, et al. Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome. Am J Med Genet. 2000;94(2):102-12.
Bacino, C. A., Stockton, D. W., Sierra, R. A., Heilstedt, H. A., Lewandowski, R., & Van den Veyver, I. B. (2000). Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome. American Journal of Medical Genetics, 94(2), 102-12.
Bacino CA, et al. Terminal Osseous Dysplasia and Pigmentary Defects: Clinical Characterization of a Novel Male Lethal X-linked Syndrome. Am J Med Genet. 2000 Sep 11;94(2):102-12. PubMed PMID: 10982966.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome. AU - Bacino,C A, AU - Stockton,D W, AU - Sierra,R A, AU - Heilstedt,H A, AU - Lewandowski,R, AU - Van den Veyver,I B, PY - 2000/9/13/pubmed PY - 2000/10/21/medline PY - 2000/9/13/entrez SP - 102 EP - 12 JF - American journal of medical genetics JO - Am J Med Genet VL - 94 IS - 2 N2 - We describe a new syndrome of distal limb anomalies and pigmentary skin defects in 10 females of a large, four-generation pedigree. The family was ascertained through a 4-month-old infant girl with multiple anomalies, including hypertelorism, iris colobomas, low-set ears, midface hypoplasia, punched-out pigmentary abnormalities over the face and scalp, generalized brachydactyly, and digital fibromatosis. No affected males were identified in this pedigree. Affected females had a lower than normal male-to-female ratio of liveborn offspring, and some of them also had a history of several miscarriages. These findings, together with a significant variability in the phenotype of the affected females, suggest that this condition is inherited in an X-linked dominant fashion, with prenatal male lethality, and that X-inactivation plays an important role in the phenotypic expression of the disease. The syndrome has been described twice in the literature, but only in sporadic cases; it was therefore not recognized as a mendelian entity. Because the most consistent findings are anomalies of the distal skeleton of the limbs and localized pigmentary abnormalities of the skin, we named the syndrome "terminal osseous dysplasia with pigmentary defects." This condition, though rare, can be added to the small group of male lethal X-linked dominant disorders in humans. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/10982966/Terminal_osseous_dysplasia_and_pigmentary_defects:_clinical_characterization_of_a_novel_male_lethal_X_linked_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=2000&volume=94&issue=2&spage=102 DB - PRIME DP - Unbound Medicine ER -