Extremely rare syndrome with primary craniosynostosis
Camera Lituania Cohen Syndrome; Holoprosencephaly
The disorder has been described
in only two sisters. The parents were healthy and nonconsanguineous.
Transmission seems to be autosomal recessive.
Body length and weight were below the third
percentile at birth. Craniofacial signs included facial asymmetry with
brachioplagiocephaly, upslanted palpebral fissures, hypertelorism,
blepharophimosis, and epicanthal folds. Magnetic resonance imaging of the
brain showed a semilobar type of holoprosencephaly. Primary craniosynostosis
involving the coronal and lambdoid sutures was present at birth. The hands
and feet were small with clinodactyly of the fifth finger. Generalized
hypotonia may result at least in part from significantly reduced muscle
mass. Severe growth retardation continued to be an issue in infancy, with
body weight and length still below the third percentile. Reexamination at
3 years of age showed persistent skull asymmetry, slender long bones, small
vertebral bodies, coxa valga, hypoplastic terminal phalanges, and
cone-shaped epiphyses of the fingers. The second phalanx of both fifth
fingers were hypoplastic. At 3 years of age, speech was absent, the gait was
unsteady, and the electroencephalogram was normal. The second patient was
diagnosed in utero, and the pregnancy was electively terminated at 21 weeks
of gestation. Basically, the same morphologic findings were found in the fetus.
Craniosynostosis may be associated with
raised intracranial pressure. Perioperative poikilothermia, convulsions,
airway obstruction, and bradycardia have been described in the perioperative
course of patients with holoprosencephaly and must be taken into
consideration for the anesthetic management.
Disorders associated with
Agnathia-Holoprosencephaly: Infant presents with agnathia
associated with cleft lip/palate, hypertelorism, and dysregulation of the
sympathetic nervous system. The holoprosencephaly is associated with agenesis
of the corpus callosum.
Fryns Syndrome: Very rare polymalformative syndrome
characterized by diaphragmatic hernia and unusual facies.
The proportion of patients who survive the neonatal period represents 14%
of reported cases. Majority are stillborn or die in the early neonatal
Trisomy 13: Chromosomal disorder characterized by specific
midline dysmorphic features and organ malformations. Usually leads to death
before the age of 6 months.
Trisomy 3p: Duplication of the short arm of chromosome 3 with
severe delay in mental development, craniofacial dysmorphism, urogenital
maldevelopment, and various occasional anomalies, including cardiac defects,
cleft lip/palate, holoprosencephaly, dermatoglyphic findings, and other
Camera G, Lituania M, Cohen MM: Holoprosencephaly and primary
craniosynostosis: The Genoa syndrome. Am J Med Genet