Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.

The chondrodysplasias are a heterogeneous group of disorders characterized by abnormal growth or development of cartilage. Current classification is based on mode of inheritance as well as clinical, histologic, and/or radiographic features. A clinical spectrum of chondrodysplasia phenotypes, ranging from mild to perinatal lethal, is due to defects in the gene for type II collagen, COL2A1. This spectrum includes Stickler syndrome, Kniest dysplasia, spondyloepiphyseal dysplasia congenita (SEDC), achondrogenesis type II, and hypochondrogenesis. Individuals affected with these disorders exhibit abnormalities of the growth plate, nucleus pulposus, and vitreous humor, which are tissues that contain type II collagen. The Strudwick type of spondyloepimetaphyseal dysplasia (SEMD) is characterized by disproportionate short stature, pectus carinatum, and scoliosis, as well as dappled metaphyses (which are not seen in SEDC). The phenotype was first described by Murdoch and Walker in 1969, and a series of 14 patients was later reported by Anderson et al. The observation of two affected sibs born to unaffected parents led to the classification of SEMD Strudwick as an autosomal recessive disorder. We now describe the biochemical characterization of defects in alpha 1(II) collagen in three unrelated individuals with SEMD Strudwick, each of which is due to heterozygosity for a unique mutation in COL2A1. Our data support the hypothesis that some cases, if not all cases, of this distinctive chondrodysplasia result from dominant mutations in COL2A1, thus expanding the clinical spectrum of phenotypes associated with this gene.

Spondyloepiphyseal dysplasia tarda.

OBJECTIVE: To present a case of spondyloepiphyseal dysplasia (SED) tarda in a 14-yr-old boy. CLINICAL FEATURES: The patient suffered from chronic bilateral hip pain and range of movement was decreased. Radiographic examination showed findings consistent with skeletal dysplasia tarda. INTERVENTION AND OUTCOME: The patient was given specific stretching exercises and encouragement to stay active. Physiotherapy was provided to strengthen the hip adductor muscles. CONCLUSION: The presence of short stature, symmetrical hip dysplasia and abnormal vertebral bodies should raise the suspicion of a skeletal dysplasia, specifically spondyloepiphyseal dysplasia.

[Striated osteopathy]. / L'ostéopathie striée.

Striated osteopathy, a roentgenological entity characterized by longitudinal striations, can occur concomitantly with a number of disorders which should be routinely looked for. There are three types of striated osteopathy. The pure form without severe bone disorders is the form originally reported by Voorhoeve. In the second form, there is a concomitant fibrous dysplasia, such as Jaffe-Lichtenstein-Uehlinger disease, Ollier enchondromatosis, sponastrism dysplasia, or osteopetrosis. This group also includes bone dysplasias with sclerosis such as melorheostosis, osteopecilia, and sclerosis of the base of the skull which is sometimes seen in patients with striated osteopathy. In the third form, striated osteopathy occurs concomitantly with a skin disease such as patchy dermal hypoplasia or hyperpigmented skin lesions.

Melnick-Needles syndrome in males: a lethal multiple congenital anomalies syndrome.

A male fetus with decreased calvarial mineralization and suspected omphalocele was identified prenatally in a woman with oligohydramnios and Melnick-Needles syndrome (MNS). At autopsy, exophthalmos, prune belly sequence with urethal atresia and megacystis, tetralogy of Fallot, atrioventricular canal defect, and complete malrotation of the gut were identified. Mandibular hypoplasia and delicate, bowed, irregular, long bones and ribs with widening and deep cupping of the metaphyses were found radiographically. In addition, we review 3 previously reported cases of males with similar, lethal malformations, all born to mothers with MNS. It is our conclusion that these anomalies characterize the male MNS phenotype. A review of all reported viable individuals with MNS identified 2 distinct entities: a mild form found only in females, compatible with normal life expectancy in most cases and inherited in an X-linked dominant male lethal or sex limited autosomal dominant pattern, and a different, more severe disorder, termed precocious osteodysplasty, found in both males and females and inherited as an autosomal recessive trait.