References of "Clinical Dysmorphology"
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See detailBony syngnathia, vertebral segmentation defect, coloboma, microcephaly and mental retardation: confirmation of Dobrow syndrome and review of syndromal syngnathias
Verloes, Alain ULg; Raoul, M.; Genevieve, D. et al

in Clinical Dysmorphology (2004), 13(4), 205-211

Congenital bony fusion of the maxilla and mandible is a rare condition. Two classifications were previously proposed dealing exclusively with craniofacial malformations. Most of the reported cases to date ... [more ▼]

Congenital bony fusion of the maxilla and mandible is a rare condition. Two classifications were previously proposed dealing exclusively with craniofacial malformations. Most of the reported cases to date represent either aglossia-aclactylia or hemifacial microsomia syndromes. We report a young girl with bony syngnathia associated with multiple defects (severe microcephaly, coloboma, vertebral segmentation defects), growth and mental delay. This patient is very similar to the patient described by Dobrow in 1983 and confirms the existence of this extremely rare disorder. (C) 2004 Lippincott Williams Wilkins. [less ▲]

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See detailHypertrichosis, fallot tetralogy, growth and developmental delay
Verloes, Alain ULg; Massin, Martial; Fransolet, Anne-Catherine et al

in Clinical Dysmorphology (2004), 13

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See detailHeterogeneity of sponastrime dysplasia: Delineation of a variant form with severe mental retardation
Verloes, Alain ULg; Misson, Jean-Paul ULg; Dubru, J. M. et al

in Clinical Dysmorphology (1995), 4(3), 208-215

We report a child with short stature, osteopenia with metaphyseal striations and severe mental retardation. This child shows radiological and clinical features of SPONASTRIME dysplasia. Only three ... [more ▼]

We report a child with short stature, osteopenia with metaphyseal striations and severe mental retardation. This child shows radiological and clinical features of SPONASTRIME dysplasia. Only three sibships with this disorder have been reported. In two families, affected patients were of normal intelligence. In the third one, as well as our case, the dysplasia was complicated by severe mental retardation of unknown origin. The severity of the retardation in our case and a previous report, and some difference in the gestalt and radiological aspects, suggest that SPONASTRIME dysplasia is a heterogeneous disorder. We provisionally propose to split SPONASTRIME dysplasia in two phenotypically distinct subgroups, and to delineate here a 'new' variant with microcephaly and severe mental impairment. [less ▲]

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