Abstract. X-linked dominant chondrodysplasia punctata, (CDPX2 – MIM ) also known as Conradi-. Hünermann-Happle syndrome, is a rare form of. X-linked chondrodysplasia punctata 2 is a disorder characterized by bone, skin, and eye abnormalities. It occurs almost exclusively in females. Although the. Minerva Pediatr. Mar;45(3) [Chondrodysplasia punctata (the Conradi-Hünermann syndrome). A clinical case report and review of the literature ].
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Rare Disease Database
Sundrome punctata tends to resolve on its own within the first few years of life. Investigational Therapies Information on current clinical trials is posted on the Internet at www. This page was last edited on 30 Julyat He also had patchy alopecia of the scalp and follicular atrophoderma of the knees.
The linkage of the gene seemed to be excluded for the entire X chromosome by 2-point linkage analysis. CDPX2 patients display skin ocnradi 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.
Physical findings showed severe skeletal anomalies, including asymmetric skull with hypoplastic right face, short neck, kyphoscoliosis, shortness of the right upper and lower limbs, short right third digit, and dislocation of the head of the right radius.
Whittock NV, Izatt L. Additional characteristic findings may include sparse, unruly hair; ichthyosis, primarily over the neck, on the chest, under the arms, and on the backs of the legs; and underdevelopment of the nose nasal hypoplasia.
The mother was born with short femora and humeri, the left leg shorter than the right, saddle nose, frontal bossing, flexion contractures at the hips and knees, left talipes equinovarus and hyperkeratosis with erythema of the left side of the body.
Such features commonly include asymmetric shortening of long bones of the limbs, particularly those of the upper arms humeri and the thigh bones femoracausing disproportionate length of the arms and legs with one side typically more affected than the other. Heterogeneity of chondrodysplasia punctata. Achondroplasia Hypochondroplasia Thanatophoric dysplasia. These disorders include other forms of ichthyosis. Treatment can involve operations to lengthen the leg bones, which involves many visits to the hospital.
Mutations of the EBP gene result in deficient levels of functional copies of this protein. Family members bore other stigmata including patchy cicatricial alopecia, coarse hair, follicular atrophoderma, frontal bossing, cataracts, short stature, and short proximal limbs.
Conradi–Hünermann syndrome – Wikipedia
Mutations of the EBP gene result in the accumulation of sterols in the plasma and certain tissues of the body. The son lived only 1 hour.
Achondrogenesis type 2 Hypochondrogenesis. Two-point linkage analysis and analysis of recombination chromosomes seemed to exclude the gene from the entire X chromosome. However, as noted above, there is loss of distinctive epiphyseal stippling over time, potentially making diagnosis difficult.
Raine syndrome Osteopoikilosis Osteopetrosis. Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. syndro,e
Radiographs showed generalized punctate calcifications of the epiphyseal regions of long bones, vertebrae, and the pelvic bone. Additional features included coarse, dry hair with spotty scalp alopecia, mild nasal depression, mild midface flattening, and cutaneous linear streaky hypotrophy.
The X-linked recessive form is clinically mild but has cerebral involvement. Gonadal mosaicism may be suspected when apparently unaffected parents have more than one child with the same genetic abnormality. Fetal warfarin syndrome, which may also be referred to as coumarin embryopathy, is a characteristic pattern of birth defects in a newborn resulting from exposure to certain anticlotting drugs i. Spondyloepiphyseal dysplasia congenita Multiple epiphyseal dysplasia Otospondylomegaepiphyseal dysplasia.
X-linked dominant chondrodysplasia punctata: Osteochondroma osteochondromatosis Hereditary multiple exostoses. He did not have cataracts, and cognition was normal. Achondrogenesis type 1B Autosomal recessive multiple epiphyseal dysplasia Atelosteogenesis, type II Diastrophic dysplasia.
OMIM Entry – # – CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT; CDPX2
Information on current clinical trials is posted on syndrme Internet at www. Expert curators review the literature and organize it to facilitate your work. From Wikipedia, the free encyclopedia. According to investigators, some cases of the disorder appear to result from different mutations of the same gene i.