Z. Nazará

A distinct osteochondrodysplasia with hypertrichosis—Individualization of a probable autosomal recessive entity

SummaryTwo sibs and two other unrelated patients presented a distinct previously undescribed syndrome consisting of generalized congenital hypertrichosis, macrosomy at birth, narrow thorax, cardiomegaly, wide ribs, platyspondyly, hypoplastic ischiopubic branches, small obturator foramen, bilateral coxa valga, enlarged medullar canal, long bones shaped like an ‘Erlenmeyer flasks’ and generalized osteopenia. The family data suggest autosomal recessive inheritance.

Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Further delineation of a new genetic syndrome

The hypertrichosis and osteochondrodysplasia syndrome is a rare entity with clinical findings including macrosomia at birth cardiomegaly. Autosomal recessive inheritance is presumed based on the report of two affected sibs born to healthy parents. Here we report on four new patients with their follow-up data, as well as on one of the four cases from the original report. Comparison of all eight cases indicates that they share 50% of clinical and radiological changes. This report contributes to the further delineation of this newly recognized syndrome.

Guadalajara camptodactyly syndrome. A distinct probably autosomal recessive disorder.

Two sisters, aged 18 and 11 years, were found to have an intrauterine growth retardaion‐malformation syndrome which included camptodactyly as a typical sign. The overall analysis of the clinical and radiological findings permitted the individualization of a distinct entity. The family data suggested autosomal recessive inheritance.

Frontonasal dysplasia in the Klippel-Feil syndrome: A new associated malformation

This paper describes an 8‐year‐old girl with Klippel‐Feil syndrome (KFS) associated with frontonasal dysplasia, Sprengel deformity and postaxial polydactyly. These findings are tentatively explained on the basis of a single mutant gene for KFS with broad action in the morphogenesis of the skeletal system.

Individualization of a syndrome with mental deficiency, macrocranium, peculiar facies, and cardiac and skeletal anomalies.

The authors report four unrelated girls presenting mild mental deficiency and a distinct malformation syndrome, mainly consisting of short stature, macrocranium, peculiar facies with prominent forehead, hypertelorism and exophthalmos, cardiac anomalies and cutis laxa with characteristic wrinkled palms and soles, typical ribs, small vertebral bodies and slender long bones. All were sporadic cases of non‐consanguineous parents of advanced age at their births, suggesting a de novo autosomal dominant mutation.

Guadalajara camptodactyly syndrome type II

Two sisters and an unrelated girl presented a distinct intrauterine growth retardation‐malformation syndrome with short stature, microcephaly, pectus excavatum, hip dislocation, hypoplastic pubic region and genitalia, camptodactyly, talipes, shortened 2nd toes, hypoplastic patella and skeletal dysplasia probably due to homozygocity from an autosomal recessive gene.

Achalasia microcephaly syndrome in a patient with consanguineous parents: support for a.m. being a distinct autosomal recessive condition

A 4 9/12‐year‐old boy with achalasia microcephaly syndrome (AMS), born to a consanguineous couple, is reported. Comparative analysis of this case and the patients previously described in a Mexican family supports the notion that the syndrome is a distinct autosomal recessive condition. It is interesting that the area of origin and ethnicity of both the present and the previously reported cases is northwest Mexico.

Prenatal growth retardation, pelvic hypoplasia, and arthrogrypotic changes of lower limbs: A distinct autosomal-recessive disorder

We report on 5 sibs (4 males, 1 female) with growth retardation, severe pelvic hypoplasia, arthrogrypotic changes and muscular hypotrophy of the lower limbs, and mild vertebral changes of prenatal onset. To our knowledge, this syndrome has not yet been reported. The family history suggests autosomal-recessive inheritance.

Keratosis palmaris et plantaris with Clinodactyly

Keratosis palmaris et plantaris and clinodactyly of the 5th finger was diagnosed in 11 members of a family with a typical pattern of autosomal dominant inheritance. It is concluded that both traits ar

Cortical blindness, growth and psychomotor retardation and postaxial Polydactyly: A probably distinct autosomal recessive syndrome

A 14‐month‐old female infant with a syndrome mainly consisting of cortical blindness, psychomotor retardation and postaxial Polydactyly (type B in hands and type A in feet) was studied. Two deceased sibs were similarly affected. Differential diagnosis and the review of medical literature permit the individualization of a distinct syndrome with a probable autosomal recessive pattern of inheritance.