We report on the 10-year follow-up and clinical, cytogenetic, and molecular investigation of a girl admitted for evaluation because of speech delay, learning difficulties, aggressive behavior, and dysmorphic facial features that included high forehead, round face, epicanthic folds, low-set dysplastic ears, flat nasal bridge, long flat philtrum, thin upper lip, small mouth, and short neck. The a...

Histomorphological studies of the digestive system of Alestes baremoze captured from Lake Albert, Uganda, were done using standard procedures. These revealed that A. baremoze has a fleshy-lipped terminal small mouth, large molar, short oesophagus, a three-lobed liver, pouch-like stomach, a nine-fingered caeca, and a long tubular intestine. A stratified squamous epithelium with numerous mucus-se...

Sheldon-Hall syndrome (SHS) is a rare autosomal dominant, inherited arthrogryposis syndrome characterized by multiple congenital contractures of the distal limbs. To date, four genes that encode the skeletal muscle fiber complex have been confirmed as the causative genes. Mutations in MYH3 have been identified most frequently and few cases of SHS caused by TPM2 mutations have been reported worl...

Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. Epidemiological data for the prevalence of SHS are not available, but less than 100 cases have been reported in the literature. Other common clinical features of SHS ...

The Proseal laryngeal mask airway (PLMA) (The Laryngeal Mask Company Ltd., Victoria, Seychelles) is an advanced form of the LMA with a softer and larger cuff to improve sealing and a drain tube to permit venting of the stomach. However, when a larger cuff is used, it is more difficult to save space for inserting the PLMA in the patient's mouth, and the larger cuff is more likely to fold over (1...

The main aim of this work is to present unusual case with full trisomy 18 and additional robertsonian translocation- Rob (13;14) detected through abnormalities found in prenatal ultrasound examination. A 26 years-old pregnant women with no family history of any reproductive failure underwent level II ultrasound screening in 19 weeks of gestation. Polyhydramnios, intrauterine growth retardation,...

SIR, Arndt–Gottron scleromyxoedema is a rare fibromucinous disorder regarded as a variant of the lichen myxoedematosus. The diagnostic criteria are a generalized papular and sclerodermoid eruption, a microscopic triad of mucin deposition, fibroblast proliferation and fibrosis, a monoclonal gammopathy (mostly IgG-k paraproteinaemia) and the absence of a thyroid disorder. This disease initially p...

We report a complex rea(3;5;9) observed in an unbalanced child who inherited this mutation from his mother and maternal grandfather. The propositus, a male infant, was the only child of healthy non-consanguineous parents aged 28 (father) and 24 years. There was no history of miscarriages or malformations on either side of the family. The pregnancy and vaginal delivery were normal. The infant’s ...

Corresponding author: Cheon-Hee Park, M.D., Department of Anesthesia and Pain Medicine, Gwangju Christian Hospital, 37, Yangnim-ro, Nam-gu, Gwangju 503-715, Korea. Tel: 82-62-650-5154, Fax: 82-62-650-5116, E-mail: [email protected] This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http:// creativecommons.org/licenses/by-nc/3...

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...