Teebi hypertelorism syndrome.
Teebi (1987) described an autosomal dominant syndrome with resemblance to craniofrontonasal dysplasia. Here we present a 2 year 5 month old girl with Teebi syndrome showing a prominent forehead, hypertelorism, mild exophthalmos, downslanting palpebral fissures, a depressed nasal bridge, a broad nasal tip, a long philtrum, natal teeth, a thin upper lip, an everted lower lip, a small chin, low-set ears, preauricular fistulas, a short neck, mild pectus excavatum, an umbilical hernia, clinodactyly of the 5th fingers with mild radial deviation of the distal phalanges of the middle fingers, mild pes adductus, an ectopic kidney, and normal psychomotor development. Her mother and her grandmother had similar features.
Koenig
Rainer
R
Institute of Human Genetics, Johann Wolfgang Goethe University, Frankfurt, Germany. r.koenig@em.uni-frankfurt.de
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology*; D000328:Adult; D002675:Child, Preschool; D005192:Family Health; D005260:Female; D005546:Forehead / Q000002:abnormalities; D005799:Genes, Dominant; D006801:Humans; D006972:Hypertelorism / Q000235:genetics* / Q000473:pathology*; D008046:Lip / Q000002:abnormalities; D009666:Nose / Q000002:abnormalities; D010641:Phenotype