| Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype. | |
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MedLine Citation:
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PMID: 22581171 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Chondrodysplasia punctata (CDP) is a heterogenous group of skeletal dysplasias characterized by aberrant bone mineralization, manifesting radiologically as epiphyseal stippling. Among this group, brachytelephalangic dysplasia, a benign form of CDP (CDPX1), is probably under-reported. It is an X-linked recessive disorder and is characterized by a flat nasal tip, short columella and maxillary hypoplasia, involvement of terminal phalanges, and stippled chondrodystrophy. This paper presents a clinical series of 13 patients with brachytelephalangic dysplasia. These patients enrolled during 2002-2006 were re-evaluated and their dysmorphic features were compiled in a predesigned proforma. Skeletal survey, karyotype, cardiac evaluation, and ophthalmic evaluation were planned for all the cases. Out of 13 patients, 10 were males and three were females. All patients had flat facies, a depressed nasal bridge, a hypoplastic nose, a short philtrum, notched alae nasi, brachydactyly, and hypoplastic terminal phalanges. In addition, congenital heart disease, optic nerve hypoplasia, and developmental delay were found in a few patients. Radiography showed hypoplastic terminal phalanges, delayed bone age (1/13), epiphyseal stippling in carpal (3/13) and tarsal bones (2/13), sacral bone (1/13), and bullet-shaped lumbar vertebra (1/13). Cranial neuroimaging, thyroid profile, and karyotype carried out in a few were normal. The present paper discusses various clinical features and associated abnormalities in patients with brachytelephalangic dysplasia (CDPX1) to further delineate the phenotype. The presence of a similar phenotype in females suggests the possibility of another locus or manifestation of disease in heterozygous females. Arylsulfatase E gene analysis would further help in establishing the genotype-phenotype correlation. |
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Authors:
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Neerja Gupta; Manju Ghosh; Rashmi Shukla; Ganesh Prasad Das; Madhulika Kabra |
Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Clinical dysmorphology Volume: 21 ISSN: 1473-5717 ISO Abbreviation: Clin. Dysmorphol. Publication Date: 2012 Jul |
Date Detail:
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Created Date: 2012-06-01 Completed Date: 2012-09-27 Revised Date: 2013-01-22 |
Medline Journal Info:
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Nlm Unique ID: 9207893 Medline TA: Clin Dysmorphol Country: England |
Other Details:
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Languages: eng Pagination: 113-7 Citation Subset: IM |
Affiliation:
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Genetic Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Brachydactyly
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genetics,
pathology Child Child, Preschool Chondrodysplasia Punctata / genetics, pathology* Developmental Disabilities / genetics, pathology* Facial Asymmetry / genetics, pathology Female Finger Phalanges / pathology, radiography Genetic Diseases, X-Linked / genetics, pathology* Heart Defects, Congenital / pathology Humans Infant Infant, Newborn Male Phenotype* |
| Comments/Corrections | |
Comment In:
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Clin Dysmorphol. 2013 Jan;22(1):44
[PMID:
23207426
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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