19 Chondrodysplasia Punctata, Brachytelephalangic Type
Chondrodysplasia Punctata, Brachytelephalangic Type 625
Facial dysmorphism, chondrodysplasia punctata, hy- poplastic distal phalanges, moderate growth distur- bance
Frequency: Rare (fewer than 100 published cases).
Genetics
X-linked recessive (OMIM 302940), caused by muta- tions or deletions of the arylsulfatase E gene, located at Xp22.3. Warfarin embryopathy probably involves drug-induced inhibition of the same enzyme.
Clinical Features
• Dysmorphic face with characteristic nose (short columella, depressed nasal bridge, anteverted nares)
• Very short distal portion of fingers
• Moderate growth disturbance Differential Diagnosis
• Other chondrodysplasia punctata disorders, espe- cially Sheffield type
• Fetal warfarin syndrome
Radiographic Features Extremities
• Punctate calcifications in the cartilaginous epi- physes (most typically, the calcaneus); in the soft tissue surrounding the joints; and in the cartilage of the trachea and larynx (in infancy)
• Disappearance of stippling (within 2 years)
• Hypoplastic distal phalanges, with narrowed proxi- mal portions (in infancy)
• Postaxial polydactyly
• Delayed ossification of calcaneus Spine
• Mild platyspondyly
• Sagittal clefts
Bibliography
Canepa G, Maroteaux P, Pietrogrande V. Sindromi dismorfiche e malattie costituzionali dello scheletro. Piccin, Padova, 1996
Curry CJR, Magenis RE, Brown M, Lanman JT, Tsai J, O’Lague P, Goodfellow P, Mohandas T, Bergner EA, Shapiro LJ.
Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome. N Engl J Med 1984; 311: 1010–5
Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M, Cox L, Maroteaux P, Sheffield L, Rappold GA, Andria G, Petit C, Ballabio A. A cluster of sulfatase genes on Xp22.3:
mutations in chondrodysplasia punctata (CPDX) and im- plications for warfarin embryopathy. Cell 1995; 81: 15–25 Maroteaux P. Brachytelephalangic chondrodysplasia punctata:
a possible X-linked recessive form. Hum Genet 1989; 82:
167–70
C
Chondrodysplasia Punctata, Brachytelephalangic Type 626
a
c
b
Fig. 19.2. Patient 2, newborn. The distal phalanges of the toes are hypoplastic, and show variable degrees of stippling.
Some of the middle phalanges are miss- ing. Stippling is also evident in the tarsal bones. (Reprinted, with permission, from Canepa et al. 1996)
Fig. 19.1. a, b Patient 1 a at 40 days and bat 1 year and 6 months. c Patient 2 at 3 years. There is striking hypoplasia of the distal phalanges, whose ossification pattern is punctate, and bone age retar- dation. (Reprinted, with permission, from Canepa et al. 1996)
