Cohen syndrome: evaluation of its cardiac, endocrine and radiological features.

[cohen syndrome]

Cohen syndrome (MIM no . 216550 ) is an autosomal recessive disorder with a typical clinical picture . Since the first report , most publications have represented single case reports . In this study , our aim was to describe cardiac , endocrine and radiological abnormalities in 22 Cohen patients of Finnish descent . Detailed investigations of the heart revealed the anatomy of the heart to be normal with no evidence for clinically significant mitral prolapse . However , a decreased left ventricular function with advancing age was identified . No significant endocrine abnormalities were found at the examination of pituitary , adrenal and thyroid function . The height was either normal or patients were moderately short (mean height standard deviation score (SDS ) - 2 ) at all ages , associated , however , often with the marked kyphosis . Truncal obesity was seen in 4 /22 patients . X-rays of the chest , lumbar and thoracic spine , long bones , ankles and metacarpophalangeal pattern profiles revealed kyphosis , scoliosis and calcaneo planovalgus as common features . Fingers of these patients were slender but short with a characteristic metacarpophalangeal pattern profile .

Diseases
Validation

Diseases presenting "first report" symptom

achondroplasia

alexander disease

aniridia

cadasil

canavan disease

child syndrome

cohen syndrome

congenital toxoplasmosis

cowden syndrome

cushing syndrome

cutaneous mastocytosis

cystinuria

dedifferentiated liposarcoma

dentinogenesis imperfecta

dracunculiasis

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erdheim-chester disease

esophageal squamous cell carcinoma

fabry disease

familial mediterranean fever

focal myositis

harlequin ichthyosis

hirschsprung disease

hodgkin lymphoma, classical

holt-oram syndrome

homocystinuria without methylmalonic aciduria

inclusion body myositis

junctional epidermolysis bullosa

kabuki syndrome

kindler syndrome

krabbe disease

lamellar ichthyosis

liposarcoma

lymphangioleiomyomatosis

monosomy 21

neonatal adrenoleukodystrophy

neuralgic amyotrophy

oculocutaneous albinism

oligodontia

omenn syndrome

pendred syndrome

pleomorphic liposarcoma

primary hyperoxaluria type 1

pyomyositis

pyruvate dehydrogenase deficiency

scrub typhus

severe combined immunodeficiency

sneddon syndrome

triple a syndrome

typhoid

waldenström macroglobulinemia

werner syndrome

wiskott-aldrich syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

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