CASE 3804 Published on 27.04.2006
0

Chondrodysplasia punctata

Section

Paediatric radiology

Case Type

Clinical Cases

Authors

H En-Nouali, A Elkharras, K Ennibi, T Salaheddine, H Boumedin, S Chaouir, M Benameur. Service d’imagerie Médicale. Hôpital Militaire d’instruction Mohammed V. Rabat. Maroc.

Connected authors
Patient

4 months, male

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Clinical History
A 4 months old-boy presents bone deformations since his birth at the level of the knees with limitation movements of joints, nasal hypoplasia, cataracts, and ichthyosis.
Imaging Findings
A 4 months old-boy, single in his family and resulting from a no consanguineous marriage. he was born at term, of 2 kg 500 and 48 cm tall. He presents bone deformations since his birth at the level of the knees with limitation movements of joints, nasal hypoplasia, cataracts, and ichthyosis. X-Ray showed punctate calcification of epiphyse grouped at the level of the lower limbs, pelvis and on the level of the cartilage : The femora and humerus are asymmetrically short and the metaphyses around the knee joint are splayed. The hips are dislocated. Unfottunately, other X-Ray and genetic investigations was not done because the patient was taken missed.
Discussion
Chondrodysplasia Punctata is a hereditary disorder that affects infants and young children. It is a skeletel abnormality,.it refers to a heterogeneous group of conditions which share calcific stippling of cartilage, of the epiphyses, larynx and trachea and periarticular soft tissues. These disorders differ in clinical features, severity, inheritance pattern and radiological features. an agreed upon classification has yet to be established - The rhizomelic type (an autosomal recessive disorder of peroxisomal function) is usually lethal in infancy and consists of proximal limb shortening, short stature, flat facies, cataracts, mental retardation and ichthyosiform skin rash. - The X‑linked dominant type, thought to be lethal in males, is characterized by asymmetrical skeletal abnormalities with short stature, shortening of the long bones, dysplasia and contracture of joints, and scoliosis together with flat nasal bridge, congenital ichthyosiform erythroderma, cicatricial alopecia of the scalp, abnormal hair and cataracts. - An X‑linked recessive form has been described in association with a deletion of the terminal short arm of an X chromosome, in brothers with epiphyseal stippling, nasal hypoplasia, ichthyosis and mental retardation. We think that our case is X-linked recessive. - Conradi‑Hünermann syndrome (non rhizomelic, nonlethal, type) has been applied to an apparently heterogeneous group of conditions whose features include asymmetrical short stature, scoliosis, cataracts, ichthyotic skin and flat facies with nasal hypoplasia. The patients included some with X‑linked dominant, autosomal dominant and sporadic forms, and can be quite mildly affected. Differential diagnosis is discuted with warfarin embryopathy, alcohol embryopathy, Zellweger syndrome, multiple epiphyseal dysplasias .
Differential Diagnosis List
Chondrodysplasia Punctata
Final Diagnosis
Chondrodysplasia Punctata
Case information
URL: https://www.eurorad.org/case/3804
DOI: 10.1594/EURORAD/CASE.3804
ISSN: 1563-4086
Figure 1

figure 1

figure 1
punctate calcification of epiphyse grouped at the level of the lower limbs, pelvis and on the level of the cartilage. The femora is asymmetrically short and the metaphyses around the knee joint are splayed.The hips are dislocated
Figure 2

figure 2

figure 2
punctate calcification of epiphyse grouped at the level of the superior limbs, and on the level of the cartilage : The femora humerus is asymmetrically short
figure 2
punctate calcification of epiphyse grouped at the level of the superior limbs, and on the level of the cartilage : The femora humerus is asymmetrically short