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EEC syndrome sine sine?

Clinical Genetics, 1988
We report a family with oligosymptomatic EEC syndrome. Whereas the mother had most symptoms of this syndrome, one son presented a minimal ectrodactyly and a highly arched palate and one daughter showed only a unilateral stiff thumb. The variability of this syndrome is discussed.
F Majewski, W Küster
exaly   +3 more sources

The EEC Syndrome

Archives of Pediatrics & Adolescent Medicine, 1974
The term EEC syndrome consists of ectrodactyly (E), ectodermal dysplasia (E), and cleft of the lip and palate (C). The purpose of this report is to describe six new cases of the EEC syndrome. Five of the patients are white and one is a male black. Four of the patients are female and two are male. Two of the four female patients are sisters.
C, Pries   +5 more
openaire   +2 more sources

Absent meibomian glands: A marker for EEC syndrome [PDF]

open access: yesEye, 1996
A patient with a 20 year history of severe keratoconjunctivitis of unknown origin was found, on assessment at a blepharitis clinic, to have complete absence of meibomian glands. Further examination revealed the features of EEC syndrome. To our knowledge, this is the only case to have been diagnosed in this way.
Peter Eustace
exaly   +3 more sources

Urinary Tract Involvement in EEC Syndrome

Archives of Pediatrics & Adolescent Medicine, 1985
A patient with fully expressed, sporadic ectrodactyly, ectodermal dysplasia, and cleft lip and/or palate (EEC) syndrome with renal involvement is presented; descriptions of four similar patients were found in the literature. Based on these patients, we suggest that the renal involvement is a form of dysplasia secondary to fetal urinary tract ...
R, London, R M, Heredia, J, Israel
openaire   +2 more sources

The EEC syndrome

Clinical dysmorphology, 1996
Analysis of 230 published cases of the EEC syndrome revealed that, besides the cardinal symptoms (ectrodactyly, ectodermal dysplasia and clefting), lacrimal tract abnormalities and urogenital abnormalities are part of this syndrome. Mental retardation and various abnormalities and dysmorphisms of the ears and face, reported in EEC syndrome, do not ...
Roelfsema, NM, Cobben, JM
openaire   +1 more source

A case of the Freire‐Maia odontotrichomelic syndrome: Nosology with EEC syndrome

American Journal of Medical Genetics, 1989
AbstractWe report on a patient, born to consanguineous parents, who had a complex malformation syndrome of severe upper limbs anomalies, peculiar face, structural ear anomalies, nasolacrima1 duct obstruction, and abnormal hair and nails. We think that the clinical manifestations of the patient are similar to those described by Freire‐Maia as the ...
L. PAVONE   +5 more
openaire   +2 more sources

Rectal atresia as rare manifestation in EEC syndrome

American Journal of Medical Genetics, 1996
A newborn boy presented with bilateral split hand/foot malformation, sparse hair, dry and scaly skin, and nasolacrimal duct obstruction. Despite absence of cleft lip or palate, the findings fit the EEC syndrome. Additionally, the boy had rectal atresia.
F, Majewski, T, Goecke
openaire   +2 more sources

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