Pycnodysostosis is a rare disorder that was first described in 1962; however, it was only in 1996 that the defective gene was discovered, which led to a better understanding of this disease. This study reports and discuss a case of pycnodysostosis. In addition, a search of articles published in PubMed-Medline was performed. The case was a 13-year-old girl who was referred to a private clinic fo...

We describe a 7-year-old boy with a complex rearrangement involving the whole short arm of chromosome 9 defined by means of molecular cytogenetic techniques. The rearrangement is characterized by a 18.3 Mb terminal deletion associated with the inverted duplication of the adjacent 21,5 Mb region. The patient shows developmental delay, psychomotor retardation, hypotonia. Other typical features of...

Histological and anthropometric studies were made of the hands and face of a 17-week-old (postmenstrual) human fetus that was exposed to warfarin throughout gestation. The fetus had marked nasal hypoplasia and the facial cartilages contained discrete foci of abnormal cartilage. When compared with age-matched control fetuses hand pattern profile analysis showed that the brachydactyly was due to ...

Cri-du-chat syndrome is a chromosomal abnormality involving a 5p deletion and is characterised by a cat-like cry, mental retardation, microcephaly and abnormal facial features. We report a case of prenatally-diagnosed cri-du-chat syndrome. Although PAPP-A was low at first trimester screening (FTS), the combined risks of trisomies 21, 18 and 13 were low. Amniocentesis was, however, carried out f...

Cystic fibrosis (CF) is the most common severe genetic disorder seen in Caucasians. Defective exocrine gland secretions result in chronic diseases of the respiratory and gastrointestinal systems. However, the CF gene recently has been located and cloned. Currently, genetic technology allows identification of sibling carriers and antenatal diagnosis within families. Oral implications associated ...

X-linked recessive chondrodysplasia punctata (CDPX) is a congenital defect of bone and cartilage development characterized by aberrant bone mineralization, severe underdevelopment of nasal cartilage, and distal phalangeal hypoplasia. A virtually identical phenotype is observed in the warfarin embryopathy, which is due to the teratogenic effects of coumarin derivatives during pregnancy. We have ...

This communication presents the first case of complete trisomy 19q, prenatally detected by ultrasound investigation. Real-time high-resolution ultrasound examination was performed at 19 weeks of gestation. After termination of the pregnancy, autopsy investigation was done. GTG-banding, fluorescence in situ hybridization m-(FISH) analysis, and FISH analysis with a 19q subtelomeric specific probe...

Rubinstein-Taybi syndrome (RTS) is characterized by peculiar facies, mental retardation, broad thumbs, and great toes. Approximately one-third of the affected individuals have a variety of congenital heart diseases. They can also have upper airway obstruction during sleep, due to hypotonia and the anatomy of the oropharynx and airway, which make these patients susceptible to obstructive sleep a...

We and others have reported mutations in LONP1, a gene coding for a mitochondrial chaperone and protease, as the cause of the human CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373). Here, we delineate a similar but distinct condition that shares the epiphyseal, vertebral and ocular changes of CODAS but also included severe microtia, nasal hypoplasia, and other malf...

Interstitial deletions of chromosome 12p are rare, and the phenotype spectrum is therefore still unknown. The thirteen patients reported so far suffer from developmental delay, optic nerve hypoplasia, micropenis, hypoplastic hair and skin, oligodontia, brachydactyly, and arterial hypertension. We report a de novo 12p12.2-p11.22 deletion of 9.2 Mb detected by array CGH analysis in a boy with glo...