R. Fragoso

Crouzon with acanthosis nigricans. Further delineation of the syndrome.

Patients with Crouzon and acanthosis nigricans syndrome show craniofacial features similar to those observed in patients with classic Crouzon syndrome, in addition to acanthosis nigricans with peculiar characteristics. More severe physical manifestations, such as Chiari malformation, hydrocephalus, and atresia or stenosis of the choanas, which are unusual in individuals with classic Crouzon syndrome, are reported in these patients. The molecular abnormality associated with Crouzon syndrome with acanthosis nigricans (CAN) is a transition in the transmembrane domain of the FGFR3 gene that results in an Ala391Glu mutation. We describe two unrelated patients showing this mutation and compare their clinical features with those of other patients with CAN reported in the literature. In addition to craniosynostosis with crouzonoid facies and acanthosis nigricans (present in all patients), melanocytic nevi, choanal atresia or stenosis, hydrocephalus, Chiari malformations and oral abnormalities were observed in the majority of the 35 patients analyzed. Vertebral anomalies and conductive hearing loss were present with less frequency. Some characteristics considered typical of this condition (jaw cementomas, acanthomas and finger abnormalities) were absent in most of the patients.

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.

A new psychomotor retardation syndrome with peculiar facies and marfan‐oid habitus

We studied four sibs, two males and two females, who presented psychomotor retardation, typical flat facies and some features of the Marfan phenotype such as tall stature, long and slim limbs, arm span larger than height, “arachnodactyloid” hands and feet, little subcutaneous fat and muscle hypotonia. It is concluded that the aggregate of morphoneurological anomalies constitute a new syndrome probably inherited in an autosomal recessive fashion.

A “new” autosomal dominant genodermatosis characterized by hyperpigmented spots and palmo‐ plantar hyperkeratosis

A previously undescribed genodermatosis consisting of tiny hyperpigmented spots aggregated in irregular maculae and mainly localized in the regions exposed to light is reported. Hyperkeratotic papules in the palms and soles were also present. Autosomal dominant inheritance is concluded.

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.

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.

Severe mental deficiency, proportionate dwarfism, and delayed sexual maturation

SummaryTwo 46,XY brothers were found to have a previously undescribed syndrome characterized by severe mental deficiency, proportionate dwarfism, and delayed sexual development. A recessive mode of inheritance, either autosomal or X-linked, is assumed.

Generalized osteoporosis in a patient with oculocutaneous hypopigmentation syndrome (OOCHS), without cerebral defects A new syndrome?

An 8‐year‐old male patient presented a unique pattern of congenital anomalies. Prominent findings included a combination of severe osteoporosis and congenital oculocutaneous hypopigmentation. The patient may represent a hitherto undescribed syndrome of unknown etiology.