We report a 26-month-old girl with profound hearing impairment, microcephaly, psychomotor retardation, short palpebral fissures, hypertelorism, epicanthic folds, a broad nasal bridge, anteverted nostrils, large low-set ears, micrognathia, brachymesophalangy of the second and the fifth fingers, clinodactyly of bilateral fifth fingers and a wide interdigital space between the first and the second...

Aniridia in man and Small eye in mice are semidominant developmental disorders caused by mutations within the paired box gene PAX6. Whereas heterozygotes suffer from iris hypoplasia, homozygous mice lack eyes and nasal cavities and exhibit brain abnormalities. To investigate the role of gene dosage in more detail, we have generated yeast artificial chromosome transgenic mice carrying the human ...

Mandibuloacral dysplasia (MAD; MIM 248370, 608612) is a rare progeroid syndrome with autosomal recessive inheritance. It is characterized by mandibular hypoplasia, acroosteolysis, delayed closure of the cranial sutures, skin atrophy with mottled hyperpigmentation, stiff joints, and growth retardation. We here report Japanese female siblings with a severe MAD phenotype. Because of extreme microg...

AIM Oral rehabilitation of a child with Johanson-Blizzard syndrome (JBS). BACKGROUND JBS is an extremely rare inherited disorder characterized by unusually small nose that appears 'beak shaped' due to the absence (aplasia) or underdevelopment (hypoplasia) of the nostrils (nasal alae), abnormally small, malformed primary (deciduous) teeth and misshapen or absent secondary (permanent) teeth, he...

becker's naevus shows itself as a pigmented area of skin which is aquired , persistant and asymmetrical and sometimes shows evidence of increased androgen sensitivity. colocalization with other developmental anomalies is reported rarely. we report a 20 year old woman who developed an extensive and bilateral becker naevus since the age of 12 year and had left breast hypoplasia, too.

150 Maxillary sinus hypoplasia (MSH) is the underdevelopment of maxillary sinus antrum and it is usually associated with other anomalies, such as uncinate process and infundibular passage. Hypoplasia is classified into three: Type I is mild hypoplasia, normal uncinate and infundibulum; Type II is significant hypoplasia with hypoplastic or absent uncinate and pathological infundibular passage; T...

AIMS Levels of enamel hypoplasia in past populations are frequently used to study health. However, few studies have looked at patterning in the occurrence of different types of hypoplasia. In this pilot study, skeletal remains from an Iron Age tomb at Pella in Jordan were analysed for the presence of linear and pit enamel hypoplasia, to investigate enamel hypoplasia aetiology by comparison of t...

Snodgrass et al (1966) divided the D trisomy syndrome into two phenotypic categories based on facial appearance. Patients in their first category had facies associated with defects of prosencephalic cleavage. A striking finding was median cleft lip and palate. In addition there was orbital hypotelorism with severe ocular anomalies, hypoplasia or aplasia of the crista galli, of the median philtr...