Context: Cartilage-hair hypoplasia is a rare hereditary cause of short stature. The aim of this study was to familiarize physicians with this rare but important disease. Evidence Acquisition: This article is a narrative review of the scientific literature to inform about clinical features and management of Cartilage-hair hypoplasia. A systematic search identified 127 papers include original and...

BACKGROUND Tubular breasts are caused by connective tissue malformation and occur in puberty. The main clinical characteristics of the tubular breast are breast asymmetry, dense fibrous ring around the areola, hernia bulging of the areola, megaareola, and hypoplasia of quadrants of the breast. Pathology causes great psychological discomfort to patients. METHODS This study included 17 patients...

a 7 year old boy with desanctis-cacchione syndrome - xeroderma pigmentosum, microcephaly, mental deficiency, dwarfism and gonadal hypoplasia - will be presented.

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...

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...

Congenital or developmental deformities of the chest rarely cause severe functional problems in the manner of larger anomalies of the limbs. Poland syndrome is known as a variety of associated anomalies centered on the trunk and upper limbs. The authors report the case of a 28-year-old female with absence of the pectoralis major muscle and depression of the left anterior thoracic wall (sunken c...