Syndrome characterized by unilateral or bilateral
microphthalmos and blepharoptosis. In rare cases, affected infants present
anophthalmia, severe mental retardation, microcephaly, and malformations of
the teeth, ears, and digits.
Lenz Dysplasia; Lenz Syndrome II; Lenz Dysmorphogenic
Syndrome; Lenz Microphthalmia Syndrome; Microphthalmia with Associated
Twenty case reports in the literature.
Genetic inheritance is controversial. Most
cases are X-linked (gene map locus is Xq27-Xq28), but an autosomal
inheritance cannot be excluded in some cases.
Pathophysiologic background has not been determined.
Based on clinical features.
Microcephaly with mental retardation, and various
anomalies of external ear, digits (double thumbs), heart, skeleton, and
urogenital system. Features of the syndrome include severe ophthalmic
abnormalities possibly including microphthalmia (even anophthalmos), absent
pupil, microcornea, and a variety of craniofacial anomalies such as
microcephaly, auricular malformations, and dental abnormalities. Other
features include skeletal anomalies with underdeveloped shoulders, webbed
neck, cardiac malformations (bicuspid aortic valve), hypospadias, and other
severe urogenital anomalies. Most patients are mentally retarded with
dilatation of the lateral ventricles (hydrocephalus) and dysgenesis of the
Thorough history and examination are
necessary to determine the extent of the syndrome. Particular note should be
made of the following:
Central nervous system involvement including epilepsy, mental retardation, and
Respiratory system involvement as a result of restrictive skeletal
Urogenital involvement, possibly to the point of renal impairment
Craniofacial abnormalities that may cause airway difficulties
Cardiac evaluation (echocardiography, electroencephalography) to eliminate associated defects
Because of the versatility in the
expression of the syndrome, each patient must be evaluated individually. The
potential association with multiple organ system involvement and anesthesia
raises numerous considerations and challenges. Based on proper preoperative
evaluation of the cardiovascular and respiratory systems, including the
airway, anesthesia considerations are directed by the associated anomalies
rather than the syndrome itself. The association of microcephaly, cleft lip
and palate, and respiratory problems may lead to difficult induction of
No specific implications reported for
this medical condition. However, in the presence of difficult airway
management, use of muscle relaxants should be postponed until the trachea
has been secured and lung ventilation confirmed. The presence of microcephaly should indicate a need to
reduce the amount of anesthetic used to maintain hemodynamic stability and a
proper depth of surgical anesthesia.
Aicardi Syndrome: X-linked syndrome affecting females only,
characterized by the absence of corpus callosum, infantile spasms by age 3
months because of closure of the final neural synapses in the brain, mental
retardation, and lacunae of the retina.
Goltz Syndrome: X-linked dominant disease with in utero lethality
in males characterized by focal dermal hypoplasia, asymmetrical limb
defects, and a variety of additional anomalies; very similar to Aicardi
MIDAS Syndrome: X-linked phenotype distinct from Goltz syndrome;
characterized by microphthalmia, ...