6. Aoyama M., Sawada h., Shintani Y., Isomura I., Morita A. Case of unilateral focal dermal hypoplasia (Goltz syndrome). J Dermatol. 2008; 35:33-5. 7. Leoyklang P., Suphapeetiporn K., Wananukul S., Shotelersuk V. Three novel mutations in the POrCn gene underlying focal dermal hypoplasia. Clin Genet. 2008; 73:373-9. 8. Goltz r.W. Focal dermal hypoplasia syndrome. An update. Arch Dermatol. 1992; ...

Breast hypoplasia may have a congenital or acquired etiology. One of the acquired reasons is postinfectious scars, which results in skin restriction and breast hypoplasia in the long term. Reconstruction of breast hypoplasia is performed by autologous tissues, implants, or both. In this report we present a hypoplastic breast reconstruction by subcutaneous scar releasing and multiple autologous ...

Enamel hypoplasia is an important clinical problem commonly seen in children born to diabetic women. We aimed to characterize the enamel hypoplasia in Wistar rats born to alloxan-induced diabetes mellitus rats. Groups consisted of pregnant rats supplemented (ISDR) or not (NISDR) with insulin and controls, in which sterile saline solution was administered instead of alloxan or insulin. The mandi...

Lung tissue developmental abnormalities are seldom reported. According to the classification of Schneider (1900), which was amended by Boyden (1955), they include pulmonary agenesis, aplasia and hypoplasia. Due to the early onset of symptoms, lung agenesis and aplasia are usually detected soon after birth. Conversely, lung or lobar hypoplasia may remain clinically silent for a long time. A sing...

OBJECTIVES To study the epidemiology of optic nerve hypoplasia. DESIGN AND METHODS Children with optic nerve hypoplasia and visual impairment were identified through the Swedish Register of Visually Impaired Children. Pre- and perinatal characteristics were obtained from the Medical Birth Registry and by scrutinizing pregnancy and delivery records. Clinical characteristics of children with op...

Maxillary hypoplasia that necessitates surgical advancement affects approximately 25% of patients born with cleft lip and palate. Syndromic conditions such as Crouzon may also be accompanied by significant maxillary hypoplasia. Severe maxillary hypoplasia can result in airway obstruction, malocclusion, proptosis, and facial disfigurement. For optimal stability, severe hypoplasia is best address...

no abstract

We present a child with the rare association of ct ngenital muscular dystrophy, hypoplasia of the lateral abdo ninal wall musculature and hypoplasia of the external genitc lia.

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...

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