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Extremely rare syndrome with primary craniosynostosis and holoprosencephaly.

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Camera Lituania Cohen Syndrome; Holoprosencephaly Craniosynostosis Syndrome.

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The disorder has been described in only two sisters. The parents were healthy and nonconsanguineous. Transmission seems to be autosomal recessive.

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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.

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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.

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Disorders associated with holoprosencephaly.

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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.

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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 period.

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Trisomy 13: Chromosomal disorder characterized by specific midline dysmorphic features and organ malformations. Usually leads to death before the age of 6 months.

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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 malformations.

Camera G, Lituania M, Cohen MM: Holoprosencephaly and primary craniosynostosis: The Genoa syndrome. Am J Med Genet 47:1161, 1993.  [PubMed: 8291548]

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