Polymalformative syndrome of unknown origin
characterized by particular facial features and mental retardation.
Mental Retardation-Microcornea-Microcephaly Syndrome.
No more than 10 cases have been described to date.
Based on clinical features. Radiologic examination
reveals a turricephalic skull, marked craniofacial disproportion, mild
kyphoscoliosis, coxa valga, bilateral hypoplasia of the first ray of both
hands, and mild bilateral hypoplasia of the terminal and intermediate
phalanges of the hands and feet.
Intrauterine and postnatal growth retardation.
Neonatal respiratory distress. Lack of specific manifestations in early
infancy, together with a changing phenotype. Congenital hypotonia, mental
retardation, and microcephaly. Ophthalmologic features include hypertelorism, telecanthus, epicanthus, eyelid
ptosis, blepharophimosis, up-slanting palpebral fissures, nystagmus,
exotropia, strabismus, amblyopia, myopia, microcornea, optic atrophy, and sparse
and laterally broad eyebrows. Other facial features may include a
flat philtrum, micrognathia, poorly formed
teeth, high and narrow palate, preauricular tags, and small and low-set ears.
Lordosis, flat feet, joint contractures, constipation, large clitoris,
edema, and cutis laxa may occasionally be present.
Careful assessment of respiratory
function and neuromuscular development.
laryngoscopy because of micrognathia and high, narrow palate.
Peripheral vascular access may be difficult secondary to joint contractures
and cutis laxa.
and severity of the congenital hypotonia dictates the management of
intraoperative and postoperative ventilation support and intensive care
Use of succinylcholine in presence of
generalized hypotonia is better avoided. No reports associated with malignant
Congenital Rubella Syndrome: Microcephaly, cataracts/congenital
glaucoma, congenital heart disease, deafness, purpura, splenomegaly,
jaundice, and mental retardation; a result of maternal infection in early pregnancy
Lowe Syndrome: Congenital disorder characterized by cataracts, infantile glaucoma,
renal dysfunction and
De Toni Debré Fanconi Syndrome: An inherited condition involving
a generalized transport defect in the proximal tubules resulting in renal losses
of glucose, calcium, phosphate, uric acid, amino acids, and bicarbonate
leading to renal failure, osteomalacia, and short stature.
Briscioli V, Manoukian S, Selicorni A, et al: Kaufman oculocerebrofacial
syndrome in a girl of 15 years. Am J Med Genet 58:213, 1995.
Kaufman R, Rimoin DL, Prensky AL, et al: An oculocerebrofacial syndrome.
Birth Defects Orig Artic Ser