Ophthalmological, skeletal, and cardiac abnormalities in sibs born to consanguineous parents: a new syndrome?

We report on a sibship from a consanguineous couple consisting of one boy with anophthalmia, one boy with buphthalmos and multiple congenital skeletal, muscle, and cardiac abnormalities, and a stillborn girl with anophthalmia and cardiac and skeletal abnormalities. A possible new syndrome of autosomal recessive inheritance and variable expressivity is discussed, comparing this report with others.

Prenatal diagnosis of 48,XYY, +21 ascertained through ultrasound anomalies.

During a routine ultrasound study on a fetus at 21 weeks, nuchal edema was noted. At 21 weeks, repeat ultrasound study at our unit showed scalp and neck edema and a femur length/biparietal diameter ratio below the mean. Transabdominal chorionic villus sampling identified a 48.XYY, +21 chromosome constitution. The fetus had normal internal/external genitalia and signs of Down syndrome.

Prenatal diagnosis of spina bifida: the fetal head shape as a clue

Realizamos uma ultra-sonografia de rotina durante a 24ª semana de gestaçäo de uma primipara de 22 anos, demonstrando-se uma anomalia do formato do crânio fetal. Repetimos a ultrasonografia na 26ª semana tendo sido confirmado um estreitamento na fossa anterior do crânio e um espinha bífica na regiäo lombro-sacra. As duas anomalias foram confirmadas no estudo anatomopatológico do feto. Ressaltamos a importância do sinal ultra-sonográfico descrito uma vez que, no Brasil, as dosagens de alfafetoproteína, quer no líquido amniótico ou no soro materno, exibem padröes de confiabilidade para fins de diagnóstico pré-natal

Prader-Willi habitus, osteopenia, and camptodactyly (Urban-Rogers-Meyer syndrome): a probable second report.

Here we describe a 12-year-old boy with finger and toe contractures, obesity, mental retardation, osteoporosis, and genital anomalies. This clinical picture was first described by Urban et al. [1979] and has been designated as "Prader-Willi habitus, osteoporosis, and hand contractures." To our knowledge, our patient represents the second report of this condition.

The Tel Hashomer camptodactyly syndrome: report of a new case and review of the literature.

We report on a new case of Tel Hashomer camptodactyly syndrome and review the literature. This syndrome is characterized by skeletal dysplasia, muscle hypoplasia, camptodactyly, and abnormal dermatoglyphics. The inheritance is autosomal recessive with probable partial expression in the heterozygote.

Prenatal ultrasound diagnosis of diastrophic dysplasia at 16 weeks.

We report on the prenatal ultrasound diagnosis of diastrophic dysplasia at 16 wk of gestation. The ultrasound examination showed abnormally short limbs and lateral projection on the thumbs. Radiological and histological studies confirmed the presence of diastrophic dysplasia in the aborted fetus.

Prenatal diagnosis of thalidomide syndrome.

A case of thalidomide syndrome diagnosed by ultrasound in the 17th week of pregnancy is presented. The pregnant woman had leprosy and received adjuvant treatment with thalidomide. The affected fetus was exposed to the drug until the 35th day of pregnancy and presented absent external ears, upper limb phocomelia and absent tibiae and fibulae. No internal organ abnormalities were noticed at autopsy.

Distal arthrogryposis type II D in three generations of a Brazilian family.

We report on three members of a Brazilian family with distal arthrogryposis type II D. This autosomal dominant trait was described by Hall et al [1982] and is characterized by scoliosis without associated vertebral anomalies and distal contractures. To the best of our knowledge, this family is the second literature report of distal arthrogryposis type II D.

The Greig cephalopolysyndactyly syndrome: report of a family and review of the literature.

The Greig cephalopolysyndactyly syndrome in characterized by a set of craniofacial defects (macrocephaly, broad nasal root) leading to peculiar facial appearance, postaxial (occasionally preaxial) polydactyly of hands, preaxial (rarely postaxial) polydactyly of feet, and syndactyly of fingers and toes. Occasionally other skeletal or nonskeletal defects are present. This is an autosomal dominant trait with complete penetrance and variable expressivity. Prognosis for mental and physical development of the affected patients is good, surgery being indicated primarily for aesthetic and functional correction of polydactyly and syndactyly. We report on a Brazilian family in whom the mother and two of three sons were affected.

A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome.

We describe two sibs born to a consanguineous couple. Among other clinical findings both have mental retardation, short stature, facial and skeletal abnormalities characterized by hypertelorism, broad notched nasal tip, cleft lip/palate, campto-brachy-poly-syndactyly, fibular hypoplasia, and marked anomalies of foot structures. Facial signs of the reported patients resemble those present in the fronto-nasal "dysplasia" syndrome; however, the whole clinical picture in the present patients suggests a true MCA/MR syndrome, most likely inherited as an autosomal recessive trait. Clinical and genetic aspects of the present family are discussed.

Odontoonychodysplasia with alopecia: a new pure ectodermal dysplasia with probable autosomal recessive inheritance.

We report on two Brazilian sisters who have a probably autosomal recessive ectodermal dysplasia of trichodysplasia, dental anomalies, onychodystrophy, skin alterations, and other findings. This appears to be the first full report of this condition for which we propose the name odontoonychodysplasia with alopecia.

Frontofacionasal dysplasia: evidence for autosomal recessive inheritance.

We report on a 2-month-old girl whose parents are first cousins. The patient has severe craniofacial anomalies characterized by: encephalocele, hypertelorism, midface hypoplasia, hypoplasia of frontal bone on the left side, malformed left eye, absent inner eyelashes, irregular S-shaped palpebral fissures, deformed nostrils, hypoplastic right nasal wing and cleft lip, and clefts of premaxilla, palate and uvula. No other malformations were observed. This association of anomalies suggests the diagnosis of frontofacionasal dysplasia. Parental consanguinity suggests autosomal recessive inheritance.

The Tel Hashomer camptodactyly syndrome in a consanguineous Brazilian family.

We report on two Brazilian sibs whose parents are first cousins with clinical findings of the Tel Hashomer camptodactyly syndrome, namely, camptodactyly, muscle hypoplasia, skeletal abnormalities, and abnormal palmar creases. Both affected sibs have flat orbital roofs not described in previous cases and a high number of dermatoglyphic arches. The patient's father had camptodactyly of the fifth fingers, possibly a heterozygote manifestation.

Carcinoma de celulas claras do endometrio em jovem de raca negra. / Clear cells carcinoma of the endometrium in a young black woman

E relatado um caso de carcinoma de celulas claras do endometrio em jovem nulipara de raca negra, fato interessante, visto se tratar de patologia que acomete na maioria das vezes pacientes de 5a. e 6a. decadas e de raca branca. A terapeutica cirurgica adotada na epoca em que a paciente foi atendida foi mais agressiva em virtude de que o conceito entao vigente era de que o carcinoma de celulas claras do endometrio apresentava maior agressividade e maior mortalidade, o que ja nao prevalece nos trabalhos mais modernos

Brief clinical report: autosomal recessive anophthalmia with multiple congenital abnormalities--type Waardenburg.

We report two Brazilian families with children who had anophthalmia and multiple congenital abnormalities and consanguineous parents. Among the five affected children, four had bilateral and one had unilateral anophthalmia. Autosomal recessive inheritance is demonstrated.

Estudo genetico-clinico da sindrome de menopausa precoce. / Clinical and genetic study of syndrome of early menopause

Estudamos quinze pacientes portadoras de sindrome de menopausa precoce (SMP), estipulando-se as caracteristicas clinicas e citogeneticas da molestia. A SMP caracterizou-se por amenorreia secundaria em mulheres que apresentaram menarca na idade normal, amenorreia esta de instalacao anterior aos 35 anos de idade, acompanhada, na maioria dos casos, de fertilidade reduzida e ondas de calor. O exame somatico das pacientes nao se encontra alterado, excecao feita a raros casos em que notamos reflexos de deprivacao hormonal verificados atraves de hipotrofia da genitalia externa. As pacientes apresentaram sempre ovarios reduzidos de volume tanto na pneumopelvigrafia quanto na laparoscopia.O estudo histologico dos ovarios revelou graus variados de fibrose do estroma, ausencia ou grande rarefacao de foliculos primordiais e raros foliculos atresicos, que, todavia, podem nao ser encontrados.As portadoras de SMP nao submetidas a tratamento hormonal substitutivo apresentaram niveis sericos de FSH e LH elevados e comparaveis aos titulos verificados em mulheres com menopausa fisiologica. A frequencia de cromatina sexual foi normal em todas as pacientes da amostra. O cariotipo estudado atraves da analise de onze metafases coradas pelas tecnicas habituais e por bandas G revelou constituicao cromossomica 46,XX em catorze pacientes. Uma paciente apresentou constituicao cromossomica 47,XX, + mar em todas as celulas