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At a glance

Extremely rare syndrome with primary craniosynostosis and holoprosencephaly (HPE). Newborn with this condition show failure of the developing brain to sufficiently divide into two separate cerebral hemispheres. This medical condition is part of a group of semilobar HPE. Endocrinopathies are associated with HPE and consist of diabetes insipidus (DI), hypothyroidism, hypocortisolism, and growth hormone deficiency.

Synonyms

Camera Lituania Cohen Syndrome; Holoprosencephaly Craniosynostosis Syndrome; Semilobar Holoprosencephaly Primary Craniosynostosis Syndrome.

History

This medical condition was first described by Camera et al in 1993 in two patients with semilobar HPE, craniosynostosis, and abnormal small hands with cone-shaped epiphyses and hypoplastic terminal phalanges of fingers. In 2001, Lapunzina et al reported a case of craniosynostosis and HPE associated with several other malformations and suggested that these findings could be attributed to a severe form of Genoa Syndrome or to a newly recognized syndrome.

Incidence

This medical condition has been observed in a small number of patients and only three cases have been reported in the literature. The incidence remains unknown.

Genetic inheritance

The genetic transmission seems associated with an autosomal recessive trait. The parents were healthy and nonconsanguineous.

Clinical aspects

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 HPE. Semilobar HPE is frequently associated with endocrinopathies that consists of DI, hypothyroidism, hypocortisolism, and growth hormone deficiency. 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 phalanges of both fifth fingers are 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.

Precautions before anesthesia

This medical condition is part of a group of semilobar HPE. Endocrinopathies are associated with HPE and consist of DI, hypothyroidism, hypocortisolism, and growth hormone deficiency. It is highly recommended to ensure preoperatively that the presence of DI is not present as the preparation of the patient and postoperative care will require significant attention. It is important to obtain a consultation with an endocrinologist.

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