Chondrodysplasia Punctata, Brachytelephalangic, Autosomal

For a general phenotypic description and discussion of genetic heterogeneity of chondrodysplasia punctata, see CDPX2 (302960).

Zizka et al. (1998) reported the cases of a brother and sister with stippled chondrodystrophy who showed telephalangic involvement. At birth, the male had an unusual face with a flat, broad nasal bridge, broad dorsum nasi, flattened tip of the nose, short columella, and mildly antimongoloid palpebral fissures; short distal phalanges with hypoplastic nails; and difference in the length of the lower limbs. Radiographs demonstrated stippled tarsal bones and sacrococcygeal spine. His growth was retarded. At 11 years of age, the right leg was 2.5 cm shorter than the left. Radiographically, there was brachytelephalangy and retarded bone age. In the second decade of life, lateral dislocation of the patellas and multiple lentiginous pigmentations increasing in number and size developed. The sister had the same appearance at birth and similarly had punctate calcification of the tarsal bones and sacrococcygeal spine. At age 6 years, asymmetry of the legs and mild scoliosis were noted. Growth was retarded. In the second decade of life, lateral dislocation of the patellas and multiple lentiginous pigmentations increasing in number and size developed. The karyotype was normal in these cases.

Wessels et al. (2003) illustrated the difficulties of causal diagnosis of CDP with a 23-week-old female fetus with nonrhizomelic CDP characterized by extensive cartilage stippling, brachyphalangy, and nasal hypoplasia. They provided a useful table of the 3 major classes and of the unclassified types.

Eash et al. (2003) described a male infant with brachytelephalangic chondrodysplasia punctata (BCDP) who had multiple serious medical problems and striking physical abnormalities, including cervical spine stenosis with resultant quadriplegia, severe nasal hypoplasia, and brachytelephalangy. Radiographs taken shortly after birth demonstrated extensive epiphyseal and vertebral stippling, and distal phalangeal hypoplasia. The 25-year-old mother's pregnancy had been complicated by severe bouts of intractable vomiting caused by a small bowel obstruction secondary to a severe high-grade synovial carcinoma. Eash et al. (2003) concluded that the severity of the phenotype in this case may have influenced by vitamin K deficiency (see 118650). Two patients with BCDP and cervical spine stenosis similar to that described by Eash et al. (2003) had been reported (Goldstein et al., 2001).