Newly recognized ectrodactyly/deafness syndrome

A 7-year-old non-Ashkenazi Jewish girl is described having asymmetrical ectrodactyly (split hand and foot deformity), short stature, mental retardation, sensorineural deafness, and abnormal facies. Because this constellation of findings has not been reported previously, the authors believe that this represents a new congenital malformation syndrome, most probably of genetic etiology.     

Familial occurrence of a syndrome with mental retardation,nasal hypoplasia,peripheral dysostosis,and blue eyes in Japanese siblings

Summary Two Japanese siblings, a 2-year-old girl and a 7-month-old boy, had a syndrome of mental retardation, severe nasal hypoplasia, peripheral dysostosis, and blue eyes. The mother showed nasal hypoplasia of lesser degree and a mild form of peripheral dysostosis. This disorder bears a striking similarity to acrodysostosis, but in view of certain novel features its relationship to the disease is uncertain. The mode of inheritance could be either dominant with variable expressivity or autosomal recessive.     

Hereditary syndrome of ectrodactyly, congenital heart defect and cleft lip and palate

A case of a family of he proband suffering from ektrodaktyly, together with heart defect, cleft lip and palate is reported. The parents came to the genetic counselling center to get the genetic prognosis for a next child. All together 3 cases demonstrating different types of radial defects were registered in this pedigree. The authors discuss possible causes of clinical polymorphism and accent the complications of giving genetic prognosis in such cases.     

Familial Down's syndrome.

A family is reported in which the same mother conceived two children with trisomy 21. The pregnancy with the second affected child was interrupted after diagnostic amniocentesis. Maternal chromosome analysis was normal. This family and those previously reported suggest that there is an increased recurrence risk of trisomy 21 after the birth of an affected individual, possibly caused by a genetic tendency for non-disjunction. After the birth of a child with Down's syndrome, amniocentesis and chromosome analysis of cultured amniotic fluid cells is indicated in each further pregnancy, irrespective of maternal age.     

Familial macroglossia-omphalocele syndrome.

A kindred is reported in which 8 infants were affected with the macroglossia-omphalocele syndrome. Their characteristics varied from an almost complete clinical picture to nodular hyperplasia with cytomegaly of the adrenals as the only manifestation of the disease. Chromosome analysis was normal. This syndrome appears to be inherited as an autosomal recessive trait, with a high proportion of incomplete clinical forms. The index patient also has signs of the Rubinstein-Taybi syndrome. The simultaneous occurrence of these two syndromes is probably a fortuitous event.     

Association of ectrodactyly and distal phocomelia

Ectrodactyly and phocomelia are well known limbs malformations.They can be a part of various syndromes, and are more often transmitted with dominant autosomal Inheritance with variable expression and Incomplete penetrance. Different loci have been Identified for ectrodactyly (SHFM1 at 7q21.3q22.1, SHFM2 at Xq26, SHFM3 at 10q24q25, SHFM4 at 3q27), and two genes are known (DSS1 for SHFM1, p63 for SHFM4). We report the case of a 33 year-old female affected with the association of ectrodactyly and phocomelia. It could be a "new" association, or a mild or partial expression of the syndrome Including ectrodactyly, phocomelia, deafness and sinusal arythmia.     

Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome

Spondylothoracic dysostosis (STD), also known as Jarcho-Levin syndrome (JLS), is an autosomal-recessive disorder characterized by abnormal vertebral segmentation and defects affecting spine formation, with complete bilateral fusion of the ribs at the costovertebral junction producing a "crab-like" configuration of the thorax. The shortened spine and trunk can severely affect respiratory function during early childhood. The condition is prevalent in the Puerto Rican population, although it is a panethnic disorder. By sequencing a set of candidate genes involved in mouse segmentation, we identified a recessive E103X nonsense mutation in the mesoderm posterior 2 homolog (MESP2) gene in a patient, of Puerto Rican origin and from the Boston area, who had been diagnosed with STD/JLS. We then analyzed 12 Puerto Rican families with STD probands for the MESP2 E103X mutation. Ten patients were homozygous for the E103X mutation, three patients were compound heterozygous for a second nonsense mutation, E230X, or a missense mutation, L125V, which affects a conserved leucine residue within the bHLH region. Thus, all affected probands harbored the E103X mutation. Our findings suggest a founder-effect mutation in the MESP2 gene as a major cause of the classical Puerto Rican form of STD/JLS.     

Familial basal cell nevus syndrome

Summary The basal cell nevus syndrome is characterized by multiple basal cell nevi and basal cell carcinoma, cysts of the jaw, anomalies of ribs and spine, abnormal calcifications, and additional anomalies of the facial skull. A German family is described with manifestations of the syndrome in the mother and her three daughters. Expressivity was variable, in part due to age effects. The observation conforms to the assumed autosomal dominant mode of inheritance with high penetrance.     

Familial clustering of a rare syndrome

Ectrodactyly, ectodermal dysplasia and cleft palate syndrome is a rare autosomal dominant multiple congenital anomaly syndrome with variable expressivity and reduced penetration. The cardinal features are cleft palate/lip, lobster hand deformity, sparse hypopigmented hair, dry scaly skin, and lacrimal and urogenital anomalies. A neonate presented to us with typical features, his mother and other two siblings were also affected.     

The skeletal anatomy of mandibulofacial dysostosis (Treacher Collins syndrome)

Three-dimensional osseous surface re-formation imaging from CT scans was used to examine the facial skeletons of 14 living patients with mandibulofacial dysostosis. Partial to complete aplasia of the zygomatic process of the temporal bone, mild hypoplasia to aplasia of the frontal process of the zygoma, antimongoloid slant of the transverse orbital axis, and hypoplasia of the medial pterygoid plates and muscles are common to all patients examined. Deformities of the zygoma, zygomatic process of the frontal bone, mandible, and lateral pterygoid plates and muscles vary from minimal to severe, including aplasia. The body of the zygoma is the least affected part of the bone. Right-left asymmetry characterizes these deformities in all patients. The most consistent skeletal aplasia (cleft) in mandibulofacial dysostosis involves the zygomatic process of the temporal bone rather than the zygoma itself.