Lid agenesis-macrostomia-psychomotor retardation-forehead hypertrichosis-A new syndrome?

Lid agenesis-macrostomia-psychomotor retardation-forehead hypertrichosis-A new syndrome?

We describe a boy with bilateral lid agenesis and total keratinization of cornea and conjunctiva, macrostomia, psychomotor retardation, forehead hypertrichosis, ocular hypertelorism, thin lips, abnormal auricles and nose, skin alterations, and other findings. Differential diagnosis with ablepharon‐m...

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Veröffentlicht in:American journal of medical genetics 1988-10, Vol.31 (2), p.299-304
Hauptverfasser: Cesarino, E. J., Pinheiro, Marta, Freire-Maia, Newton, Meira-Silva, M. C., Opitz, John M., Reynolds, James F.
Format: Artikel
Sprache:eng
Schlagworte:
ablepharon
Abnormalities, Multiple - diagnosis
Biological and medical sciences
Complex syndromes
cornea and conjunctiva (keratinization)
Diagnosis, Differential
Eyelids - abnormalities
Humans
hypertrichosis
Hypertrichosis - complications
Infant, Newborn
macrostomia
Macrostomia - complications
Male
Medical genetics
Medical sciences
palpebral agenesis
Psychomotor Disorders - complications
psychomotor retardation
sporadic occurrence
Syndrome
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Zusammenfassung:We describe a boy with bilateral lid agenesis and total keratinization of cornea and conjunctiva, macrostomia, psychomotor retardation, forehead hypertrichosis, ocular hypertelorism, thin lips, abnormal auricles and nose, skin alterations, and other findings. Differential diagnosis with ablepharon‐macrostomia syndrome is presented. Cause is unknown.
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.1320310207