The Mild Form of Hirschsprungʼs Disease (Short Segment)

Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.

Hirschsprung's disease (aganglionic megacolon, HSCR) is a frequent condition of unknown origin (1/5000 live births) resulting in intestinal obstruction in neonates and severe constipation in infants and adults. In the majority of cases (80%), the aganglionic tract involves the rectum and the sigmoid colon only (short segment HSCR), while in 20% of cases it extends toward the proximal end of the...

Short answer in short segment Barrett's oesophagus.

Mild form of inverse Klippel-Trenaunay syndrome?

To cite: Queirós G, Diamantino F, Lopes MJ. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2013-009188 DESCRIPTION Klippel-Trenaunay syndrome (KTS) is defined by a coexistence of nevus flammeus and overgrowth of one or more limbs. Remarkably, however, deficient growth of an affected limb may likewise be noted. It has been speculated that either a ‘plus’ or ‘minu...

Mild form of Hunter's syndrome: clinical delineation

The clinical features are described in 31 cases of the mild form of Hunter's syndrome (mucopolysaccharidosis II) ascertained in the British Isles. The mean age at onset was 49 3 years and at death was 21-7 years. Each patient had a large head and short stature. Umbilical and inguinal herniae were recorded in 95% and 61 % of the cases. Evidence of cardiac disease was found in 91 %; this was the ...

Short form of the developmental behaviour checklist.

A 24-item short form of the 96-item Developmental Behaviour Checklist was developed to provide a brief measure of Total Behaviour Problem Score for research purposes. The short form Developmental Behaviour Checklist (DBC-P24) was chosen for low bias and high precision from among 100 randomly selected item sets. The DBC-P24 was developed from epidemiological data in the first three waves of the ...