Acro-spondylo-pubic dysostosis associated with cataracts, microcephaly, and normal intelligence.

We report on an adult male with normal intelligence who exhibited an unusual combination of microcephaly, dysostoses of limbs, vertebrae, patellae, and pubic bone, camptodactyly of all fingers, and syndactyly of toes, absent nails on thumbs and some fingers, bilateral cataract, cryptorchidism, polythelia, and nipple-like skin pigmentations of shoulders and upper back. We have been unable to find a description of a similar combination of manifestations in literature. The cause of the anomalies remains unknown.

Klippel-Feil syndrome associated with situs inversus: description of a new case and exclusion of GDF1, GDF3 and GDF6 as causal genes.

Objective: Klippel-Feil syndrome is characterized by faulty segmentation of two or more cervical vertebrae and, in its most severe form, consists of massive cervical vertebral fusion, short neck, low posterior hairline, and limitation of head movement. Several cases associating Klippel-Feil syndrome with situs inversus totalis have been reported. In the present study, we describe the clinical features of a novel case of Klippel-Feil syndrome associated with situs inversus totalis and searched for mutations in GDF1, GDF3 and GDF6 genes, which were recently implicated in the development of skeletal and visceral anomalies.

Familial pycnodysostosis: identification of a novel mutation in the CTSK gene (cathepsin K).

Background: Pycnodysostosis, an autosomal recessive skeletal dysplasia, is characterized by short stature, osteosclerosis, delayed cranial suture closure, hypoplastic mandible, acro-osteolysis, hypoplastic clavicle, and dental anomalies. The disorder is caused by CTSK gene defects, a gene localized on 1q21.

Purpose: To describe the clinical, radiological, and molecular findings in a family with pycnodysostosis.

[Fetal ovarian cyst. A report of a case].

Fetal ovarian cyst is uncommon; it represents the second place of fetal abdominal tumors, after urinary tract tumors. The cause of fetal ovarian cysts still remains unclear, although it is likely to be promoted by hormones. Its prognosis is usually good.

[Arachnoid cyst and pregnancy. Report of a case].

The arachnoid cysts are intracranial liquid collections with a congenital etiology. It is necessary to establish the absence of bibliographical information about this disease and its relation with pregnancy. A case is presented related to the treatment of a nineteen year old pregnant patient with a 31 week pregnancy and a history of arachnoid cysts with convulsions as the main symptom.