Chondrodysplasia punctata is also known as chondrodystrophia calcificans congenita or congenital stippled epiphyses. The disease variably defined as mesomelic or rhizomelic dwarfism depending on the gene transmission.

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4 synonyms or equivalents were found. Chondrodysplasia punctata, autosomal dominant aka/or Chondrodysplasia punctata, Conradi-Hunermann type aka/or Chondrodystrophia calcificans congenita aka/or Conradi-Huenermann syndrome

Chondrodysplasia includes a variety of multiple epiphyseal dysplasia in which the unossified cartilaginous epiphyseal centres become calcified during the first year after birth. Five types are identified: rhizomelic; X-linked dominant or Conradi Hunermann syndrome; X-linked recessive or Curry type; Sheffield type; and tibia-metacarpal type. It occurs in X-linked recessive or autosomal dominant inheritance (depending on the type) with most resulting from new mutations. Clinically there is craniofacial dysmorphism: asymmetric head, frontal bossing, flat nasal bridge, dysplastic auricles, mongoloid palpebral fissures, hypertelorism, and high-arched palate. There are numerous ocular abnormalities: cataracts, corneal opacity, nystagmus, micropthalmos, microcornea, glaucoma, dislocated lens. Cutaneous abnormalities include icthyosiform erythroderma and hyperkeratosis, atrophoderma, circumscripta alopecia, sparse eyebrows and lashes, layered or split nails. There is asymmetric shortening of the limbs, dysfunction of joints (hyperflexion), clubfoot or valgus deformity, hexadactyly, scoliosis, vertebral clefting or wedging, short necks, and pulmonary artery stenosis.

Chondrodysplasia punctata (CPD) is a clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. X-linked dominant CPD, also known as Conradi-Hunermann syndrome, is the most well-characterized form. See 118650 for a possible autosomal dominant form of CPD. There are 2 brachytelephalangic forms of CPD: an X-linked recessive form (CPDX1; 302950), caused by mutation in the ARSE gene (300180), and a possible autosomal form (BCDP; 602497). There is also an autosomal dominant tibia-metacarpal type (118651). In addition, CPD can be caused by maternal vitamin K deficiency or warfarin teratogenicity (see 118650). CLINICAL FEATURES CDPX2 patients display skin defects including linear or whorled atrophic and pigmentary lesions, striated hyperkeratosis, coarse lusterless hair and alopecia, cataracts, and skeletal abnormalities including short stature, rhizomelic shortening of the limbs, epiphyseal stippling, and craniofacial defects (Derry et al., 1999).

Discussion: - comprises a group of disorders characterized by multiple punctate calcifications in infancy; - skeletal manifestations include: skin, facial, ocular, and cardiac abnormalities; - characteristic punctate calcifications are seen on x-ray at birth and usually disappear by one year of age; - Orthopaedic Manifestations: - unilateral & bilateral coxa vara frequently is associatted with assymetric shrotening of the femur; - congenital hemivertebra or congential unilateral bars are typically present giving rise to early progressive spinal deformities; - diff dx: spondyloepiphyseal dysplasia;

Search String "Chondrodysplasia Punctata"[MAJR:NoExp] URL http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&term=%22Chondrodysplasia+Punctata%22%5BMAJR%3ANoExp%5D

Review of the condition in the Arab world

Review of condition including Disease synonyms, prevalence, epidemiology, clinical picture, differential diagnosis, Lab evaluation, prognosis and treatment