منابع مشابه
18p- syndrome and hypopituitarism.
A patient is described with 18p- syndrome and hypopituitarism. This is the first patient with this syndrome who has been shown to benefit from growth hormone therapy. Patients with this syndrome who have growth deficiency should be considered for evaluation for hypopituitarism, if the quality of their lives would improve with an increase in stature.
متن کاملA rare chromosomal disorder - isochromosome 18p syndrome.
BACKGROUND Tetrasomy 18p is a very rare chromosomal disorder and is the result of a spontaneous mutation early in embryonic development in most of the cases. This condition is characterised by the presence of a supernumerary 18p isochromosome (i(18p)) in all or some cells of the affected individual. It has a prevalence of 1/180000 live births and affects both genders equally. MATERIALS AND ME...
متن کاملA case of 18p deletion syndrome after blepharoplasty
OBJECTIVE The deletion of the short arm of chromosome 18 is thought to be one of the rare chromosomal aberrations. Here, we report a case to review this disease. CASE REPORT The proband is a five-and-a-half-year-old girl who has had phenotypes manifested mainly by ptosis, broad face, broad neck with low posterior hairline, mental retardation, short stature, and other malformations. Chromosoma...
متن کاملWilkie's Syndrome or Superior Mesenteric Artery Syndrome: Fact or Fantasy?
Superior mesenteric artery (SMA) syndrome (known as Wilkie's syndrome) is a rare cause of upper gastrointestinal obstruction. It is an acquired disorder in which acute angulation of the SMA causes compression of the third part of the duodenum between the SMA and the aorta. This is commonly due to loss of fatty tissue as a result of a variety of debilitating conditions. We report a 17-year-old f...
متن کاملGenetic Counselling in a Familial Deletion 18p Syndrome
Deletion of 18p syndrome is characterized by dysmorphic features, growth deficiencies, and mental retardation with a poor verbal performance. Until now, few families have been described with limited clinical description. We report transmission of deletion 18p from a mother to his son. The proband is 8 years old and has short stature, dysmorphic features, polymorphous dyslalia and moderate menta...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1987
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198704010-00372