ectodermal dysplasia/seizures

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A rare case of aplasia cutis congenita with refractory seizures.

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Aplasia cutis congenita is a heterogeneous disorder involving symmetric focal absence of skin at birth. A 1-year-old boy presented with the clinical manifestation of intractable complex partial seizures and development delay; physical examination revealed two fibrotic scars and alopecia. His parents

[A patient with epilepsy, congenital alopecia and mental retardation: combination of atypical absence in waking and nocturnal partial seizure].

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We report a 7-year-old girl with epilepsy, congenital alopecia, and mental retardation. She was hairless at birth. Very scanty hair, eyebrows and eyelashes appeared at 2 years of age. Developmental delay was first recognized at 6 years. Nocturnal partial seizures occurred at 4 years, and atypical

[Congenital anhidrotic ectodermal dysplasia in a female infant].

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Fever of unknown origin, unability to sweat, hypotrichosis, absent eyebrows and thick everted lips were symptoms in a 3 month old female infant and raised the suspicion of anhidrotic ectodermal dysplasia. After several days of high fever and enteritis our patient presented with convulsions which

Hypohidrotic ectodermal dysplasia: a multidisciplinary approach.

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Hypohidrotic ectodermal dysplasia (HED; Christ-Siemens-Touraine syndrome) is a genetic disorder characterized by sparse hair, oligodontia with peg-shaped teeth, reduced sweating, and defects in a number of other ectodermal organs. A partial or complete absence of eccrine glands can lead to recurrent

Prevalence and prevention of severe complications of hypohidrotic ectodermal dysplasia in infancy.

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OBJECTIVE To re-evaluate the mortality of hypohidrotic ectodermal dysplasia (HED) and the prevalence of hyperpyrexia and possible neurological sequelae in affected infants. METHODS A cross-sectional postal survey was conducted among parents of 100 children with ectodermal dysplasia who had been

Clinical aspects of X-linked hypohidrotic ectodermal dysplasia.

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Boys with X-linked hypohidrotic ectodermal dysplasia and their families were studied. Many suffered severe illness in early childhood and nearly 30% died; many had feeding problems, severe fever, atopic disease, and recurrent respiratory infections. Some infants failed to thrive. We found no

Management of aplasia cutis congenita of the scalp.

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BACKGROUND Aplasia cutis congenita (ACC) is a rare condition commonly affecting the scalp in which there is a focal deficiency of cutaneous tissues of varying severity ranging from an absence of skin through to full thickness defects involving deeper elements such as bone and dura. Lesions of the

Aplasia cutis congenita, terminal limb defects and periventricular leukomalacia in one sibling with minor findings in the other-probable autosomal recessive Adams-Oliver Syndrome.

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We report on siblings with probable Adams-Oliver syndrome. The older brother had symmetric intra-uterine growth retardation, plagiocephaly, a cardiac defect and periventricular calcification. The younger sister was born with abdominal and scalp skin defects and small fingers and toes. Prenatal

An unusual case of ectodermal dysplasia.

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The syndrome was characterized by striking hypoplasia of nails, malformations of hands and feet, curly hair, small lower teeth and seizures. There were no similarly affected relatives. Death occurred at 31 months with the patient apparently in status epilepticus with terminal hepatorenal syndrome.

A malformation complex of ectrodactyly, clefting and hypomelanosis of ito (incontinentia pigmenti achromians).

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A case is described which, at birth, had a bizarre pattern of hypopigmentation (incontinentia pigmenti achromians), ectrodactyly involving all four extremities, and unilateral cleft lip and palate. This patient does not have the seizures or other neurological and developmental anomalies previously

New clinical findings in oculo-ectodermal syndrome.

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We report a 2-year-old male with aplasia cutis congenita of the scalp, epibulbar dermoids, strabismus and macrocephaly. In our opinion, he is affected by the Oculo-Ectodermal syndrome first described by Toriello et al. (1993). Am J Med Genet 45:764-766]. This is the sixth report of patients with

Aymé-Gripp Syndrome

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Aymé-Gripp syndrome is classically defined as the triad of bilateral early cataracts, sensorineural hearing loss, and characteristic facial features in combination with neurodevelopmental abnormalities. The facial features are often described as "Down syndrome-like" and

A case of Adams-Oliver syndrome associated with acrania, microcephaly, hemiplegia, epilepsy, and mental retardation.

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Adams-Oliver syndrome (AOS) is a rare congenital disorder, characterized by aplasia cutis congenita (ACC) of the scalp and variable degrees of terminal transverse limb defects. In this article, a newborn infant diagnosed as AOS for a large scalp defect, acrania, and finger malformations is

Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications.

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Long-term observations of individuals with the so-called Langer-Giedion (LGS) or tricho-rhino-phalangeal type II (TRPS2) are scarce. We report here a on follow-up of four LGS individuals, including one first described by Andres Giedion in 1969, and review the sparse publications on adults with this

Oculo-ectodermal syndrome: A case report and further delineation of the syndrome.

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Oculo-ectodermal syndrome (OES - OMIM 600628), also known as Toriello Lacassie Droste syndrome, is a very rare condition, first described by Toriello et al., in 1993. OES has been proposed to be a mild variant of encephalocraniocutaneous lipomatosis (ECCL). It is characterized by aplasia cutis

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