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Severe lymphedema, intestinal lymphangiectasia, seizures and mild mental retardation: further case of Hennekam syndrome with a severe phenotype.

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We report on an Italian patient affected by severe lymphedema of lower limbs, genitalia and face, intestinal lymphangiectasia, seizures, and moderate mental retardation. He has a flat face, flat nasal bridge, and hypertelorism. We propose that he presents with a severe form of Hennekam syndrome.

Congenital lymphoedema, bronchiectasis and seizure: case report.

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A 10-year-old girl with facial anomalies, mental retardation, peripheral lymphoedema, convulsions, cerebral cortical dysgenetic changes, bronchiectasis and chronic sinusitis is presented. She had features of both yellow nail syndrome and Hennekam syndrome. We think that our case might be a new

Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation.

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We report on two male and two female relatives with intestinal lymphangiectasia; severe lymphedema of limbs, genitalia, and face; facial anomalies; seizures; mild growth retardation; and moderate mental retardation. Main facial anomalies are a flat face, flat nasal bridge, hypertelorism, small

Far-infrared ray for treating chronic lower extremity lymphedema with dermatolymphangioadenitis: a postoperative complication of gynecological tumor resection.

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OBJECTIVE Lower extremity lymphedema is regarded as a relatively common postoperative complication and is often accompanied with dermatolymphangioadenitis (DLA). This study combines clinical assessment and laboratory investigation to explore therapeutic effects of far-infrared radiation (FIR)

Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review.

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The Hennekam syndrome is an infrequently reported heritable entity characterized by lymphedema, lymphangiectasia, and developmental delay. Here we add an additional 8 patients, and compare their findings to the 16 cases from the literature. The lymphedema is usually congenital, can be markedly

Intestinal lymphangiectasia, lymphedema, mental retardation, and typical face: confirmation of the Hennekam syndrome.

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We report on a male with intestinal lymphangiectasia, mild mental retardation, seizures, and a typical face; the syndrome was first delineated by Hennekam et al., Am. J. Med. Genet. 34:593-600 [1989]. His parents are consanguineous. This case seems to confirm the existence of the Hennekam syndrome.

LYMPHODYSPLASIA AND KRAS MUTATION: A CASE REPORT AND LITERATURE REVIEW.

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Cardio-facio-cutaneous (CFC) syndrome is a very rare and sporadic disease whose characteristics include dysmorphic facial appearance, ectodermal abnormalities, cardiac abnormalities, growth retardation and neurodevelopmental delay. This syndrome is classified as one of the RAS syndromes which are

Craniosynostosis and kidney malformation in a case of Hennekam syndrome.

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Hennekam syndrome is a rare autosomal recessive syndrome which was described for the first time in 1989. Here, we present a girl with intestinal lymphangiectasia, severe lymphedema of limbs, seizures, mild mental retardation, and facial anomalies consistent with the diagnosis of Hennekam syndrome.

Ring chromosome 14 syndrome. Report of two cases, including extended evaluation of a previously reported patient and review.

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A case of r(14) chromosome is described and new information is added to a previously reported patient. The r(14) syndrome is reviewed on the basis of 37 known patients. The major features include prenatal and postnatal growth retardation, mental retardation, seizures, microcephaly, and distinct

Schimmelpenning syndrome: an association with vascular anomalies.

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OBJECTIVE Schimmelpenning syndrome is a rare neurocutaneous disorder characterized by craniofacial nevus sebaceus in association with seizures, developmental delay, and ocular or skeletal pathology. Vascular anomalies also have been described in this condition, and some authors have suggested that

Amniotic band sequence and its neurocutaneous manifestations.

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Six new cases of the amniotic band sequence with a wide spectrum of defects were studied with respect to neurocutaneous manifestations, including histopathologic characteristics. Fetuses 1 and 2 were stillborn. Despite severe craniofacial involvement, infants 3 and 4 survived 1 yr and 22 months,

Intestinal lymphagiectasia: a reappraisal.

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Intestinal lymphangiectasia (IL) may vary widely in its manifestations and severity. Fifteen children seen between 1960 and 1974 with histologically proven IL are analyzed by clinical, laboratory, radiologic, and histologic criteria. Remissions occurred in most patients and none died. Exacerbations

The phenotype of Sotos syndrome in adulthood: A review of 44 individuals.

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Sotos syndrome is an overgrowth-intellectual disability (OGID) syndrome caused by NSD1 pathogenic variants and characterized by a distinctive facial appearance, an intellectual disability, tall stature and/or macrocephaly. Other associated clinical features include scoliosis, seizures, renal

Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring.

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Autism spectrum disorder (ASD) and intellectual disability (ID) can be caused by mutations in a large number of genes. One example is SHANK3 on the terminal end of chromosome 22q. Loss of one functional copy of SHANK3 results in 22q13 deletion syndrome or Phelan-McDermid syndrome (PMS) and causes a

Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome.

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This study is the first to describe age-related changes in a large cohort of patients with Phelan-McDermid syndrome (PMS), also known as 22q13 deletion syndrome. Over a follow-up period of up to 12 years, physical examinations and structured interviews were conducted for 201 individuals diagnosed

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