We report on a Brazilian girl with Kabuki syndrome (KS) and lower lip pits and anorectal anomalies. To our knowledge, four patients with KS were described as having anorectal anomalies [Matsumura et al., 1992: J Ped Surg 27:1600-1602]. Lower lip pits were observed only in a KS patient described by Franceschini et al. [1993: Am J Med Genet 47:423-425].
We report on four Brazilian patients with, among other signs, cleft lip and palate, dental anomalies, ectropion of the lower eyelids, euryblepharon, and lagophthalmia. Two were sporadic cases and two were familial cases, a mother and her equally affected son. Recently, the reports with different combination of these signs were reviewed by Gorlin et al. [1996; Am J Med Genet 65:109-112] and named blepharocheilo-dontic (BCD) syndrome. Variable expressivity and autosomal dominant inheritance were observed.
We report on two boys, monozygotic twins born to normal and nonconsanguineous parents, presenting with an unusual facial appearance, cortical atrophy, dolichocephaly, short stature, cleft palate, micrognathia, prominent upper central incisors, bilateral Sidney line, minor foot deformities, unstableness in walking, early hypotonia, hyperreflexia, hyperactivity, psychomotor retardation, and severe delay in language development. These manifestations resemble those previously described in the Smith-Fineman-Myers syndrome.
We report on a Brazilian boy, born to nonconsanguineous parents, who presented short stature, microcephaly, large ears, Robin sequence, hand anomalies, delayed bone age, and developmental delay. Major signs found in this patient are related to the Say syndrome. Os autores descrevem um menino, filho de pais normais e não-consanguíneos, apresentando baixa estatura, microcefalia, orelhas grandes, seqüência de Robin, anomalias digitais, atraso na idade óssea e atraso no desenvolvimento neuropsicomotor. Estudo cromossômico mostrou cariótipo normal, 46,XY. Os achados são compatíveis com a síndrome de Say
We report on a Brazilian boy, born to normal and nonconsanguineous parents and presenting facial asymmetry, hypotonia, cerebral anomalies, bilateral anophthalmia, supraorbital cysts, skin tags, cleft lip and palate, micrognatia, glossoptosis, cryptorchidism, and genital hypoplasia
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