OBJECTIVE: The aim of this study was to quantify glycosaminoglycans (GAGs) in amniotic fluid (AF) from an MPS VII fetus compared with age-matched fetuses obtained from normal pregnancies. METHOD: Disaccharides were measured by liquid chromatography tandem mass spectrometry, compared to age-matched controls.[…] [ncbi.nlm.nih.gov]

There was widening at both wrists and ulnar deviation of both forearms. Fingers were short and stubby. There was genu valgum. [ijaweb.org]

forearms and loss of opposition to the thumb or a thumb which looks finger-like. [whonamedit.com]

She had short forearms with difficulty in forearm supination and pronation, and a prominence on both of her elbows representing subluxation of the radial heads. [nature.com]

The forearms may be short or absent. The shoulders are usually narrow and sloping. [contact.org.uk]

Mucopolysaccharidosis type 1H (MPS1H), also known as Hurler syndrome, Hurler's disease or gargoylism, is the most severe form of mucopolysaccharidosis type 1. MPS1H presents as a multisystem disorder in the early childhood. Most important manifestation is developmental delay which becomes evident by the end of first[…] [symptoma.com]

Physical and auxological examinations revealed mesomelic appearance, ulnarly deviated hands, and borderline micrognathia in the infant, and relatively short forearms and lower [ncbi.nlm.nih.gov]

Léri-Weill syndrome ( MIM 127300 ) is characterised by dwarfism with short forearms and legs and the so-called “Madelung’s deformity” with postnatal onset Continue » which [bioscientia-humangenetik.de]

[…] stature Limbs Abnormality Fibula rudimentary Increased carrying angle Madelung deformity Radius dorsolaterally bowed and short Show images Short especially forearms and lower [datagenno.com]

Léri–Weill dyschondrosteosis or LWD is a rare pseudoautosomal dominant genetic disorder which results in dwarfism with short forearms and legs (mesomelic dwarfism) and a bayonet-like [en.wikipedia.org]

Physical and auxological examinations revealed mesomelic appearance, ulnarly deviated hands, and borderline micrognathia in the infant, and relatively short forearms and lower [ncbi.nlm.nih.gov]

forearm Show images Short lower leg Wide gap between radius and ulna Skeletal Abnormal femoral neck Abnormal tuberosity of humerus Bowing of the tibia Dorsal subluxation [datagenno.com]

The daughter had short stature, macrocephaly, hypertelorism, hepatosplenomegaly, short forearms and marked vertebral anomalies. [ncbi.nlm.nih.gov]

forearms, absence of the upper lacrimal puncta, and bilateral chronic purulent dacryocystitis. [jamanetwork.com]

The chest and upper extremities of the same infant show the mesomelic dwarfism with the short forearms and brachydactyly. [rrnursingschool.biz]

Overview A rare genetic disorder characterized by a flat face, short forearms, vertebral anomalies and hypoplastic genitalia. [checkorphan.org]

forearms, fingers and toes Abnormally small hands and feet having wide thumbs Scoliosis or irregular side-to-side spine curvature Permanently bent fifth finger (Clinodactyly [hxbenefit.com]

abnormally short fingers and toes; wedge-shaped spin bones; missing ribs; short stature; and distinctive facial feature. [rarediseases411.blogspot.com]

[…] stature Short forearms Short tibia/fibula Treatment Deformity will progress until distal radial epiphysis closes Conservative management if asymptomatic Operative correction [learningradiology.com]

There genetics are also related to Leri Weill dyschondrosteosis which combines Madelungs with short stature and short forearm segments. [congenitalhand.wustl.edu]

Typical clinical presentation consists of a short forearm, anterior-ulnar bow of the radius and a forward subluxation of the hand on the forearm. [en.wikipedia.org]

Léri-Weill syndrome ( MIM 127300 ) is characterised by dwarfism with short forearms and legs and the so-called “Madelung’s deformity” with postnatal onset Continue » which [bioscientia-humangenetik.de]

If, in addition to short stature, other symptoms such as short forearms and lower legs or other bone malformations also occur, it is considered a syndrome. [sciencedaily.com]

Hormone disorders, malnutrition, chronic disease, or a genetic disorder are some of the causes of short stature. [timesofindia.indiatimes.com]