18p− syndrome associated with hemivertebrae, fused ribs and micropenis
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چکیده
منابع مشابه
Micropenis associated with testicular agenesis.
This paper describes 2 male infants who were born with sever micropenis and in whom testicular tissue could not be identified at surgery. HCG stimulation in one infant was not followed by a rise in plasma testosterone. It was decided that both cases would be best raised as females, despite their male chromosomal sex.
متن کامل18p- 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 کاملFused Axis Vertebrae With A Third Cervical Hemivertebrae - A Rare Case Report
Congenital anomalies are common in the vertebral column. Skeletal abnormalities at the cervical region may result in severe neck pain and sudden unexpected death. During the osteology demonstration of cervical vertebrae for the MBBS students, it was observed that one of axis vertebra is fused with the 3rd cervical hemivertebrae. Vertebral bodies, pedicle, lamina of C2 and C3 were fused on right...
متن کاملMicropenis
Micropenis is part of a larger group of conditions broadly known as inconspicuous penis; however, it is fundamentally different from the other diagnoses in this group, such as webbed penis and buried penis, in that the underlying problem is the size of the penis itself, not with the surrounding and overlying skin. This condition is usually the result of a defect in the hypothalamic-pituitary-go...
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ژورنال
عنوان ژورنال: Japanese journal of human genetics
سال: 1977
ISSN: 0021-5074
DOI: 10.1007/bf01908282