No abstract available.

Trichorhinophalangeal syndrome (TRPS) was first described in 1966 by Giedion. It is a rare genetic disease and divided into two groups : TRPS type I and TRPS type II. TRPS type I is an autosomal dominant inherited disorder, defined by three characteristic findings : first, sparsely distributed brittle and slow-growing scalp hair, second, a bulbous pear-shaped nose with an elongated philtrum, third brachydactyla with angular deformities. The characteristic radiological features of the hands include cone shaped epiphysis of the proximal interphalangeal joints. Most TRPS type II is sporadic and shows multiple exosteosis, mental retardation and microcephaly in addition to the three chracteristic findings of TRPS type I . A 20-year-old female visited our department for the evaluation of her sparse, slow-growing scalp hair. She also had a bulbous pearshaped nose, ulnar deviated fingers and shortened both hallux. Some relatives of patients show similar symptoms of scalp hair. A Radiologic aly, histopathologic aly and chromosomal study were done, and we established the diagnosis, TRPS type I.
Congenital Abnormalities ; Diagnosis ; Epiphyses ; Female ; Fingers ; Hair ; Hallux ; Hand ; Humans ; Intellectual Disability ; Joints ; Lip ; Microcephaly ; Nose ; Scalp ; Young Adult

No abstract available.
Hand*

No abstract available.
Scalp* ; Superficial Back Muscles*

No abstract available.
Pregnancy*

Neurofibromatosis produces a broad spectrum of clinical manifestations. Cafe-au-lait spots, cutaneous neurofibroma and tumors of the central and peripheral nervous system are well known manifestations. One of the more serious aspects of the disease relates to the arterial involvement. Renal arterial disease with resultant hypertension has been paticularly well documented. However, cerebrovascular lesions in neurofibromatosis are uncommon. Cerebral arterial occlusive diseases with juxtabasilar telangiectasia (moyamoya disease) associated with neurofibromatosis have been documented in about 40 patients in the world literature. We report a case of neurofibromatosis associated with the moyamoya disease.
Arterial Occlusive Diseases ; Cafe-au-Lait Spots ; Humans ; Hypertension ; Moyamoya Disease* ; Neurofibroma ; Neurofibromatoses* ; Peripheral Nervous System ; Telangiectasis

No abstract available.
Progeria*

No abstract available.
Incontinentia Pigmenti*

Caffey's disease(infantile cortical hyperostosis) is an uncommon benign and self limited disorder of unknown etiology, affecting the skeleton and its contiguous fasciae and muscles. Its occurrence in isolated cases or in multiple members in families suggests the existence of two different forms, namely a sporadic form and a familial form. The tibia is the predominant bone known to be affected in the familial form, while the mandible is mostly affected in the sporadic form. This benign and self-limited disorder has rarely late recurrence or persistence of symptoms with deformity. The patient in this case had immediate and complete resolution of her symptoms while receiving acetaminophen with no recurrent bone formation during treatment with antiinflammatory drugs. We describe sporadic, nonfamilial Caffey's disease, affecting both radii and tibiae, but not involving the mandibular in a 4-month-old female infant.
Acetaminophen ; Congenital Abnormalities ; Fascia ; Female ; Humans ; Hyperostosis, Cortical, Congenital ; Infant ; Mandible ; Muscles ; Osteogenesis ; Recurrence ; Skeleton ; Tibia

Internuclear ophthalmoplegia (INO) is characteristic of lesions of the medial longitudinal fasciculus (MLF) between the third and sixth cranial nerve nucleus. Bilateral INO is due to bilateral lesions of MLF. We present here one case of bilateral INO in tuberculous meningitis.
Abducens Nerve ; Ocular Motility Disorders* ; Tuberculosis, Meningeal