developmental midline perinasal masses in children are rare lesions specifically in association with choristomas. we encountered a 3-year-old boy with epiphora, a striking mass on the nasal bridge and ipsilateral nasal hypoplasia. ct scan imaging showed multiple calcified areas within the tumor in addition to linear defect in frontal bone, hypoplastic left ethmoidal sinus and left nasal cavity,...

purpose : to report a new familial presentation of hypoplasia and absence of superior rectus in the form of unilateral monocular elevation deficiency case report : a 7-year-old boy was referred to our center (poostchi eye clinic) with a chief complaint of ocular misalignment in his right eye since birth. one of his siblings was a known case of unilateral monocular elevation deficiency and was o...

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...

background: children with myelomeningocele (mmc) develop a wide variety of hip deformities such as muscle imbalance, contracture, subluxation, and dislocation. various methods and indications have been introduced for treatment of muscle imbalances and other hip problems in patients with mmc but there is no study or meta-analysis to compare the results and complications. this review aims to find...

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 ...