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4.
South Med J ; 85(10): 1020-2, 1992 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-1411722

RESUMEN

We have reported the case of a mildly retarded woman in whom an obsessive-compulsive disorder of hair eating (trichophagia) had begun between 2 and 3 years of age. Over the next 30 years, multiple complications of trichophagia included trichobezoars, malnutrition, intestinal obstruction, and ulceration with bleeding. One of the bouts of intestinal obstruction was associated with the superior mesenteric artery blocking the duodenum. This complication has not been reported previously in this disorder. The patient's trichotillomania (hair pulling) was treated with psychotherapy, behavior modification, and various medications, without success. The tricyclic antidepressant clomipramine (Anafranil) may be of benefit in such cases.


Asunto(s)
Bezoares/cirugía , Discapacidad Intelectual/complicaciones , Tricotilomanía/complicaciones , Sulfato de Bario , Bezoares/diagnóstico por imagen , Bezoares/etiología , Preescolar , Duodenostomía , Femenino , Gastroscopía , Humanos , Radiografía , Tricotilomanía/terapia
5.
Arch Ophthalmol ; 109(7): 980-1, 1991 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-2064580

RESUMEN

Two patients with lymphedema-distichiasis syndrome illustrate that both Milroy's disease and late-onset hereditary lymphedema are sometimes associated with distichiasis. It is important for ophthalmologists to be aware of the lymphedema-distichiasis syndrome because of its ophthalmic manifestations and the associated systemic abnormalities that can be potentially life threatening.


Asunto(s)
Pestañas/anomalías , Linfedema/genética , Adolescente , Enfermedades de la Conjuntiva/complicaciones , Enfermedades de la Córnea/complicaciones , Femenino , Humanos , Masculino , Trastornos de la Pigmentación/complicaciones , Síndrome
7.
Am J Med Genet ; 30(4): 971-80, 1988 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-3055990

RESUMEN

We report on a 13-yr-old boy with acrodysostosis, a review of 30 cases in the literature, and metacarpophalangeal pattern profile (MCPP) analysis. The prominent manifestations (present in greater than 75% of cases) of this condition include nasal and maxillary hypoplasia, peripheral dysostosis, first ray hyperplasia of the foot, acromesomelic brachymelia, decreased interpedicular distance, advanced skeletal maturation and mental retardation. Results of chromosome studies have been normal. An autosomal dominant inheritance pattern was reported in two families. Maternal and paternal ages were 2 and 3 yr, respectively, above the average age of the general parent population, which suggests that advanced parental age may be a factor in the cause of this condition. A characteristically abnormal MCPP was found in our patient and in 16 additional cases studied from the literature. A mean MCPP was developed for the syndrome. MCPP analysis may be useful as a diagnostic tool in patients suspected to have acrodysostosis.


Asunto(s)
Disostosis/patología , Metacarpo/anomalías , Adolescente , Disostosis/genética , Deformidades Congénitas del Pie , Deformidades Congénitas de la Mano , Humanos , Masculino , Síndrome
9.
Am J Med Genet ; 27(1): 219-23, 1987 May.
Artículo en Inglés | MEDLINE | ID: mdl-3605198

RESUMEN

We analyzed the metacarpophalangeal pattern profile (MCPP) on 15 individuals with Robinow syndrome and calculated a mean Robinow syndrome profile. Correlation studies confirm clinical homogeneity of the hand profile in the Robinow syndrome. Discriminant analysis of individuals with Robinow syndrome compared with a sample of normal individuals produces a function of 6 MCPP variable that may provide a useful tool for diagnosis.


Asunto(s)
Anomalías Múltiples/diagnóstico por imagen , Enanismo/diagnóstico por imagen , Mano/diagnóstico por imagen , Adolescente , Biometría , Niño , Preescolar , Cara/anomalías , Femenino , Humanos , Lactante , Masculino , Metacarpo/diagnóstico por imagen , Radiografía , Síndrome
10.
Clin Pediatr (Phila) ; 26(4): 177-80, 1987 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-3549106

RESUMEN

Caffey's disease is an inflammatory skeletal disorder of infancy manifested clinically by fever, soft-tissue swelling, and constitutional signs with radiographic evidence of periosteal new bone formation. Although prevalent between 1940 and 1960, nonfamilial cases have become extraordinarily rare. The authors report the sporadic occurrence of congenital Caffey's disease in a premature infant and note an interesting association with maternal herpes zoster early during gestation. The etiology of this mysterious disease is likely to remain elusive as new cases become scarce.


Asunto(s)
Hiperostosis Cortical Congénita , Enfermedades del Prematuro , Adulto , Femenino , Herpes Zóster , Humanos , Hiperostosis Cortical Congénita/diagnóstico por imagen , Hiperostosis Cortical Congénita/etiología , Recién Nacido , Enfermedades del Prematuro/diagnóstico por imagen , Enfermedades del Prematuro/etiología , Embarazo , Complicaciones Infecciosas del Embarazo , Radiografía
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