PubMed · 9482026
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J H Damante, E T Camarini, M A Silver. 1998. Lingual mandibular bone defect: a developmental entity.. https://doi.org/10.1038/sj.dmfr.4600304
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The paper presents a European family showing bilateral Madelung's deformity within five consecutive generations. Females as well as males are affected alternately indicating autosomal dominant inheritance. Despite of a body height within the lower normal range in two patients the diagnosis of dyschondrosteosis could not be clearly established as further hints for dwarfism are missing. The etiology of Madelung's deformity may be difficult to establish. There seems to be the possibility of an inheritance independent from the complete syndroma of dyschondrosteosis. Therefore the genetic counselling will always be difficult and has to regard the wide variety of symptoms ranging from little pain and cosmetic disturbance to moderate pain and functional impairment.
D-2-hydroxyglutaric aciduria is a rare metabolic disorder, first reported in 1980, and does not yet have a clinically specific presentation pattern nor any specific treatment regime. We report a girl born with this uncommon metabolic disorder, who, at the age of 12 months, was also found to have a severe crippling form of skeletal dysplasia, spondyloenchondromatosis.
PURPOSE: To compare the prenatal ultrasonographic (US) features of skeletal dysplasia by using two-dimensional (2D) and three-dimensional (3D) US to determine whether 3D US can reveal additional diagnostic information. MATERIALS AND METHODS: Seven pregnant women suspected of having skeletal dysplasia were examined by using 2D US and 3D US. Data regarding the thorax, spine, face, limbs, hands, and feet were compared. Multiplanar and volume-rendered US images were evaluated. RESULTS: The skeletal dysplasias studied included camptomelic dysplasia (n = 2), thanatophoric dysplasia (n = 1), osteogenesis imperfecta (n = 1), arthrogryposis (n = 2), and short-limbed dysplasia (n = 1). Three-dimensional US, by allowing review in a standard anatomic orientation, was better than 2D US in depicting abnormal spatial relationships such as short ribs, splayed digits, and absent bones. Three-dimensional US enabled the acquisition of additional information in two fetuses with facial abnormalities and in two fetuses with scapular aplasia or hypoplasia (one fetus had both facial and scapular anomalies); it enabled a specific diagnosis in one fetus. The archiving capabilities of 3D US allow the review and manipulation of data after the patient has left the clinic. CONCLUSION: In three of seven patients, 3D US provided additional information in the evaluation of skeletal dysplasias, as compared with 2D US.