Congenital glaucoma

A developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm.

Short finger

Abnormally short finger associated with developmental hypoplasia.


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PMID (PMCID)
9375925
 MIXED_SAMPLE Infant
Congenital glaucoma, limb deformities, skeletal dysplasia, and facial anomalies: report of another family.
Megarbane A, Tomey K, Wakim G.
Am J Med Genet. 1997;73(1):67-71.
We report on a family of first cousin parents in which 2 of 3 children presented with congenital glaucoma, large anterior fontanelle, prominent forehead, hypertelorism, down-slanting palpebral fissures, broad and flat nasal bridge, broad nasal tip, anteverted nostrils, high-arched palate, gingival hypertrophy, pectus excavatum, prominent coccyx with skin fold, short fingers and toes, single palmar creases, flexion deformities of fingers, club feet, and osseous malformations.