ABSTRACT
The KBG syndrome is characterized by short stature, macrodontia, a specific combination of minor anomalies, developmental delay, and/or mental retardation. We reported on four patients from three unrelated families. The most frequent clinical findings were: atypical face, long/flat philtrum, thin upper lip, macrodontia, dental malposition, enamel hypoplasia, and cleft teeth. Skeletal anomalies such as cervical ribs and vertebral abnormalities were also noted. Hand anomalies were observed in three patients. Mental retardation and developmental delay were present in three of the four patients. There is wide clinical variability in the expression of this syndrome. The males are usually more severely affected then the females, suggesting possible X-linked inheritance in some cases.
Subject(s)
Abnormalities, Multiple/diagnosis , Adult , Bone and Bones/abnormalities , Brazil , Child , Cohort Studies , Craniofacial Abnormalities , Dwarfism , Female , Humans , Intellectual Disability , Male , Syndrome , Tooth AbnormalitiesABSTRACT
We report two patients with Beare-Stevenson syndrome. This syndrome presents craniosynostosis with or without clover-leaf skull, craniofacial anomalies, cutis gyrata, acanthosis nigricans, prominent umbilical stump, furrowed palms and soles, genital and anal anomalies. Both female newborn patients presented at birth with craniofacial anomalies, variable cutis gyrata in forehead and preauricular regions, prominent umbilical stump and anogenital anomalies. Furrowed palms and soles were also observed. The radiologic examination showed a cloverleaf-form craniosynostosis. Chromosomes were normal. They were born with respiratory distress and were connected to mechanical ventilation for ventilatory support. Both of them died in 50 days after birth due to secondary complications. The molecular analysis of these patients identified the mutation Tyr375Cys in the FGFR2 gene.
Subject(s)
Abnormalities, Multiple/genetics , Mutation, Missense/genetics , Receptor Protein-Tyrosine Kinases/genetics , Receptors, Fibroblast Growth Factor/genetics , Brazil , Chile , Craniosynostoses/complications , Craniosynostoses/genetics , DNA Primers , Fatal Outcome , Humans , Phenotype , Receptor, Fibroblast Growth Factor, Type 2 , Sequence Analysis, DNA , SyndromeABSTRACT
A ossificaçao do ligamento longitudinal posterior (OLLP) é causa incomum de mielopatia compressiva na populaçao caucasiana. É relatado o caso de um paciente do sexo masculino com um quadro de paraparesia espástica, cuja investigaçao radiológica mostrou OLLP. O raio-X de coluna cervical mostrou imagem laminar, vertical, com densidade óssea, posterior aos corpos vertebrais, que se estendia de C2 a T1. A tomografia computadorizada (TC) e a mielotomografia mostravam OLLP causando compressao medular ântero-posterior no seguimento descrito. Na ressonância magnética, observou-se área de hiperintensidade em T2 no segmento C7-T1, compatível com mielomalácia. O paciente foi submetido a laminoplastia tipo "open-door", com melhora do quadro parético dos membros inferiores. A OLLP deve entrar no diagnóstico diferencial das mielopatias cervicais, sendo facilmente diagnosticada através de radiografias e TC da coluna cervical. Sao revisados os aspectos clínicos e radiológicos e o tratamento da OLLP.
