[Opitz-trigonocephaly syndrome--a characteristic dysmorphia-retardation syndrome of unclear origin].
Report on a patient with Opitz-Trigonocephaly-Syndrome who was diagnosed at the age of ten months. He had a trigonocephaly and multiple other stigmata including oblique orbital fissures, internal strabism, high and narrow palate with broad alveolar ridges, microstomia, large dysplastic ears, nuchal cutis laxa, broad clumsy fingers. Additionally he had a ventricular septal defect, was dystrophic and developmentally retarded. Chromosomal analysis was normal. A sister that was recently born showed no dysmorphic signs. So far, 24 cases have been reported in the literature. This is the 5th patient in Germany.
Choudhury
A R
AR
Mucosal Immunology Laboratory, Harvard Medical School, Charlestown/Boston.
Renneberg
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A
Rackowitz
A
A
Stephani
U
U
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics / Q000534:rehabilitation; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics / Q000534:rehabilitation; D008297:Male; D026741:Physical Therapy Modalities; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome
Opitz-Trigonozephalie-Syndrom--ein charakteristiches Dysmorphie-Retardierungssyndrom unklarer Genese.