منابع مشابه
Two brothers with Martsolf's syndrome.
Two brothers affected by a syndrome consisting of short stature, hypogonadism, and severe mental retardation are reported. The syndrome shares the features of that described by Martsolf et al in two brothers born to a consanguineous Polish Jewish couple. Although our patients' parents are Sephardic Jews, they deny consanguinity. These observations and personal knowledge of another affected Jewi...
متن کاملPiebaldism and Vitiligo in Two Brothers
Piebaldism is an autosomal dominant uncommon (<1 in 20,000) congenital pigmentary disorder. Depigmented patches are present since birth. They usually remain unchanged throughout life. Vitiligo is its closest differential diagnosis. We report a unique family in which these two dissimilar depigmentations, i.e. piebaldism and vitiligo (with nevus depigmentosus), were noted in two brothers. T...
متن کاملNeuroimaging in Cockayne syndrome.
CS is an autosomal recessive multisystem disorder, which is mainly characterized by neurologic and sensory impairment, cachectic dwarfism, and photosensitivity. We describe the neuroimaging features (MR imaging, ¹H-MR spectroscopy, and CT) in the various clinical subtypes of CS from a cohort of genetically and biochemically proved cases. Hypomyelination, calcifications, and brain atrophy were t...
متن کاملSjögren-Larsson syndrome in two brothers: a case report
Sjögren-Larsson syndrome is a rare autosomal recessive disorder that was originally recognized in the coexistence of congenital ichthyosis, spastic diplegia or quadriplegia and mental retardation. We recently saw two cases with characteristic features of this rare syndrome. Two brothers aged 21 and 25 years presented with triad of congenital ichthyosis, mental retardation and spastic diplegia. ...
متن کاملConfluent and reticulated papillomatosis (Gougerot-Carteaud syndrome) in two brothers.
Confluent and reticulated papillomatosis (CRP) is a rare dermatosis of unknown origin characterized by hyperpigmented, confluent papules (1). CRP was first described in 1927 by Gougerot and Carteaud as " pap-illomatose pigmentée innominée " (2). It has been described as a relatively rare dermatosis manifesting as persistent papules that are confluent in the center and reticulated at the periphe...
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ژورنال
عنوان ژورنال: Jornal de Pediatria
سال: 1995
ISSN: 0021-7557
DOI: 10.2223/jped.804