Abstract Joubert syndrome (JS) is a rare autosomal recessive neurodevelopmental disorder that usually diagnosed late in pregnancy or postnatally based on pathognomonic midbrain–hindbrain malformation seen magnetic resonance imaging brain, which consists of the hypoplasia cerebellar vermis, thickened superior peduncles, and deepened interpeduncular fossa described as molar tooth sign. The recurr...

We report two fetuses with Fryns syndrome including the typical facial appearance and distal limb and lung hypoplasia, but no diaphragmatic hernias. The parents were consanguineous. Characteristic in both cases were the distal limb defects with brachytelephalangism and aplasia of the distal phalanges of the first toe. Since one of the two sibs had severe lung hypoplasia without macroscopic or m...

Introduction: In teeth with incomplete rhizogenesis, the canal is frustoconical and broad, foramen absent. The disinfection obturation protocol must be adapted to keep treatment within root limits. Mineral Trioxide Aggregate (MTA) performs an apexification by creating a hard tissue barrier cement deposits, it not toxic periradicular tissues. Hypoplasia quantitative enamel defect caused heredita...

Nuclear receptors (NRs), a family of 48 transcriptional factors, have been studied intensively for their roles in cancer development and progression. The presence of distinctive ligand binding sites capable of interacting with small molecules has made NRs attractive targets for developing cancer therapeutics. In particular, a number of drugs have been developed over the years to target human an...

Primary canine hypoplasia (PCH) is an enamel defect located on the mesial aspect of the facial surface at approximately the junction of the gingival and the middle thirds of the tooth. 1-5 The defect exists in two forms: minimal hypoplasia consisting of brown, white, or yellow opaque areas with a smooth surface; and obvious hypoplasia having a combination of pitting, invagination, missing ename...

Purpose We report the clinical characteristics of a Japanese family with autosomal dominant oculocutaneous albinism and a SLC45A2 gene mutation. Methods A total of 16 members of a Japanese family with general hypopigmentation and foveal hypoplasia underwent detailed clinical examinations. We evaluated the severity of foveal hypoplasia using spectral-domain optical coherence tomography (SD-OCT...

OBJECTIVE Although second-trimester nasal bone (NB) hypoplasia has been associated with fetal aneuploidy, its role as a single marker is still uncertain. Our objective was to evaluate the efficiency of NB hypoplasia as an independent marker for fetal aneuploidy. METHODS This was a prospective cohort study of women undergoing an anatomic survey between 16 and 22 weeks' gestation. The fetal NB ...

A 5-day-old female Holstein calf was necropsied because of lethargy, recumbency and anorexia. At necropsy, multiple gross defects were evident in several organs, including unclosed sutures of skull bones, asymmetrical orbits, doming of the skull bones, hydrocephalus, hydranencephaly, cleft palate, brachygnathia, ventricular septal defect, mitral valve dysplasia and rudimentary lungs. On microsc...

SUMMARY A 17-year-old healthy woman treated for unilateral hypoplastic breast anomaly with Brava-assisted fat grafting experienced persistent reduced pigmentation of the areola on the treated breast. The reduced pigmentation was confirmed at 6-month postoperative follow-up and verified by histological examination of comparable biopsies from both areolas.