[Cardio-facio-cutaneous syndrome--visual diagnosis of a rare syndrome].
This is a report of a case of cardio-facio-cutaneous (CFC) syndrome in a three-year-old boy. Apart from obvious signs of retardation in his mental and motor development, the child was conspicuous through his short stature, relative macrocephaly, vitium cordis, pendular nystagmus and ptosis and optic atrophy on both sides. The typically dysmorphic facial features that characterize this syndrome such as high forehead, biparietal impression, downward slant of the palpebral fissures, hypoplastic supraorbital ridges, depressed nasal bridge, high palate, and dysplasia of the ears, were particularly marked in this case. The hands and feet were plump, the skin rather thick, and the hair sparse and very curly. A chromosome analysis as well as metabolism tests proved normal. Until now there have been 27 reports of such cases in medical literature.
Haas
K
K
Universitätskinderklinik Tübingen.
Schöning
M
M
Enders
H
H
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D004392:Dwarfism / Q000175:diagnosis / Q000235:genetics; D004431:Ear, External / Q000002:abnormalities; D005147:Facial Bones / Q000002:abnormalities*; D006197:Hair / Q000002:abnormalities*; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D008297:Male; D012868:Skin Abnormalities; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome
Das Cardio-Facio-Cutane Syndrom--Blickdiagnose eines seltenen Syndroms.