Although most cases of spondyloepiphyseal dysplasia tarda have an X-linked recessive mode of inheritance, both autosomal dominant and autosomal recessive forms are also known. This has been mapped to the…
The disorder is an autosomal recessive trait, although there may be other modes of inheritance. Camptomelic dysplasia is in some cases associated with XY sex reversal. The majority of infants…
Clinical Manifestations. Multiple epiphyseal dysplasia usually remains unrecognized until the child is 5 to 10 years of age. The hands sometimes appear short and stubby, especially the thumbs. The shortening…
Clinical Manifestations. The major signs are failure to thrive, with resultant short stature in infancy and persistence of an open anterior fontanel even into adulthood. The head is large in…
In genetic counseling, it is important to distinguish this autosomal dominant type from the clinically similar X-linked dominant type, which is fatal in hemizygous males. Severely affected infants are either…
Clinical Manifestations. At birth, the head and face are normal but oral and dental abnormalities are common, including natal teeth, multiple frenula that obliterate the buccolabial sulcus, and partial or…
Clinical Manifestations. The moderately short stature of the short-limb type is evident by 18 to 24 months of age. The head and face are not affected. The wrists are prominent…
Clinical Manifestations. At birth, weight is normal but body length is reduced. The configuration of the head and face is normal. The elbows do not extend fully. The excessive length…
Clinical Manifestations. Growth retardation is usually not apparent until the child is 1 year old and often not until age 2 or 3. A delay in walking or an abnormal…
Clinical Manifestations. Clinical findings vary widely. Formerly, patients with similar but less severe signs were thought to have a variant form or a different condition. The differences, more apparent than…
