RESUMO
Roberts syndrome Is a genetically determined rare birth defect causing, skeletal deformities, particularly symmetrical limb reduction and craniofacial anomalies. For any child with limb and craniofacial bony malformations, this syndrome should be considered in the differentials. Although this syndrome represents only a small proportion of the total number of individuals with limb deficiency, it is important to be identified in order to give accurate genetic counselling including recurrence risk in siblings and possible prenatal diagnosis. This is the case report of a 22 days old male infant who presented with defective development of all four extremities and craniofacial abnormalities. The overall clinical and radiological features were suggestive of Roberts syndrome
Assuntos
Humanos , Masculino , Recém-Nascido , Anormalidades Craniofaciais/genética , Hipertelorismo/genética , Acetiltransferases/genética , Proteínas Cromossômicas não Histona/genética , DNA/genética , Diagnóstico Diferencial , Mutação , Pais , Prognóstico , Ectromelia/diagnósticoRESUMO
The Muenke syndrome (MS) is characterized by unicoronal or bicoronal craniosynostosis, midfacial hypoplasia, ocular hypertelorism, and a variety of minor abnormalities associated with a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. The birth prevalence is approximately one in 10,000 live births, accounting for 8-10% of patients with coronal synostosis. Although MS is a relatively common diagnosis in patients with craniosynostosis syndromes, with autosomal dominant inheritance, there has been no report of MS, in an affected Korean family with typical cephalo-facial morphology that has been confirmed by molecular studies. Here, we report a familial case of MS in a female patient with a Pro250Arg mutation in exon 7 (IgII-IGIII linker domain) of the FGFR3 gene. This patient had mild midfacial hypoplasia, hypertelorism, downslanting palpebral fissures, a beak shaped nose, plagio-brachycephaly, and mild neurodevelopmental delay. The same mutation was confirmed in the patient's mother, two of the mother's sisters and the maternal grandfather. The severity of the cephalo-facial anomalies was variable among these family members.
Assuntos
Adulto , Pré-Escolar , Feminino , Humanos , Masculino , Povo Asiático/genética , Craniossinostoses/genética , Análise Mutacional de DNA , Hipertelorismo/genética , Coreia (Geográfico) , Mutação , Linhagem , Fenótipo , Receptor Tipo 3 de Fator de Crescimento de Fibroblastos/genética , Crânio/anormalidades , Síndrome , Resultado do TratamentoRESUMO
Aarskog-Scott syndrome (ASS) is an X-linked disorder characterized by facial, skeletal and genital anomalies, including penoscrotal transposition in males. We report on a girl from a family with ASS who exhibits a transposition of the clitoris.
Assuntos
Pré-Escolar , Feminino , Humanos , Recém-Nascido , Masculino , Anormalidades Múltiplas/genética , Clitóris/anormalidades , Face/anormalidades , Doenças Genéticas Ligadas ao Cromossomo X/genética , Fatores de Troca do Nucleotídeo Guanina/genética , Hipertelorismo/genética , Pênis/anormalidades , SíndromeRESUMO
This case report presents a patient with Leopard syndrome, with multiple lentigines all over the body and face, ocular hypertelorism, delayed secondary sexual characteristics, mild cardiac abnormalities and supernumerary teeth. Clinical relevance of this syndrome lies in its early recognition and precautions to be taken during any invasive dental procedure, which if not performed under antibiotic prophylaxis and premedication, could lead to infective endocarditis. Additionally, a multidisciplinary approach with pediatric and medical consultants is mandatory during the management of such cases.
Assuntos
Anormalidades Múltiplas/genética , Adolescente , Antibioticoprofilaxia , Assistência Odontológica para Doentes Crônicos , Fácies , Genes Dominantes , Cardiopatias Congênitas , Humanos , Hipertelorismo/genética , Lentigo/genética , Masculino , Pênis/anormalidades , Síndrome , Extração Dentária , Dente Supranumerário/cirurgiaRESUMO
Se reporta una paciente de 2 años y 9 meses de edad con el diagnóstico de Síndrome de Weaver. La propósita presenta sobrecrecimiento pre y postnatal, maduración ósea acelerada asincrónica, patrón característico de signos dismórficos facial (macrocefalia, hipertelorismo, micrognatia, pabellones auriculares grandes), ensanchamiento bilateral de las metáfisis distales de fémures, persistencia de almohadillas embrionarias digitales, clinodactilia, tibia vara bilateral, retraso del desarrollo intelectual, llanto y voz roncos y bajo, atrofia cortical difusa, dilatación ventricular e hipoplasia del vermix cerebeloso. Se revisa el diagnóstico diferencial con otros síndromes de sobrecrecimiento y se plantea la posibilidad de isodisomía uniparental e impronta genómica como causa de este trastorno. La paciente aquí reportada constituye el primer caso de Síndrome de Weaver reportado en Venezuela
Assuntos
Pré-Escolar , Humanos , Hipertelorismo/genética , Micrognatismo/patologia , SíndromeRESUMO
El síndrome de Robinow es poco frecuente; hasta la fecha se han descrito alrededor de 15 casos con variabilidad en el tipo de herencia. Las características más relevantes son: talla baja, facies peculiar (cara fetal), braquimelia mesomélica, hemivértebras e hipoplasia de genitales. El presente informe describe dos hermanos, un masculino de siete años y diez meses y otor femenino de seis años de edad, donde el análisis familiar indica un tipo de herencia autosómico recesivo. Se revisa la literatura y se discuten los hallazgos