Document Detail


Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype.
MedLine Citation:
PMID:  22581171     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Neerja Gupta; Manju Ghosh; Rashmi Shukla; Ganesh Prasad Das; Madhulika Kabra
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  21     ISSN:  1473-5717     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  2012 Jul 
Date Detail:
Created Date:  2012-06-01     Completed Date:  2012-09-27     Revised Date:  2013-01-22    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  England    
Other Details:
Languages:  eng     Pagination:  113-7     Citation Subset:  IM    
Affiliation:
Genetic Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
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MeSH Terms
Descriptor/Qualifier:
Brachydactyly / 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:
Clin Dysmorphol. 2013 Jan;22(1):44   [PMID:  23207426 ]

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