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At a glance

A severe and lethal disease combining major craniofacial, cardiac, and skeletal anomalies.

Incidence

Four cases have been reported, two were sisters (40 and 24 weeks of gestation, respectively), one was a female fetus of 29 weeks of gestation and one was a male fetus of 28 weeks of gestation. Except for the girl born at 40 weeks of gestation, all other pregnancies were electively terminated.

Genetic inheritance

Most likely autosomal recessive.

Diagnosis

Based on the clinical and radiological findings.

Clinical aspects

Multiple, severe abnormalities that are associated with intrauterine or neonatal death occur. The defects in the reported patients included intrauterine growth retardation with delayed or absent general ossification, deficient skull bones, large fontanelles with wide cranial sutures, and macro- and turricephaly. The squamosal sutures were patent with ragged margins. However, the coronal sutures and frontal bones were absent and replaced with a metopic fontanelle that was contiguous with the anterior fontanelle. The face appeared small when compared to the cranium in all cases. The superior portion of the parietal bones and frontal bones were deficient in one of the patients, leaving a 4-cm diameter space over the vertex. Central nervous system anomalies consisted of dilatation of the frontal horns of the lateral ventricles, “splayed” cerebellar hemispheres, irregular falx cerebri, and a small posterior encephalocele containing brain tissue. Facial features consisted of low-set, posteriorly angulated ears, short palpebral fissures, protruding nasal spine about midway along the ridge of the nose, anteverted nares, micro-/retrognathia, U-shaped cleft palate, and microstomia. Atlanto-occipital instability was noted with neck flexion resulting in 50 to 75% obstruction of the foramen magnum. The chest appeared narrow with normally lobulated but hypoplastic lungs with bronchial cartilage missing from the distal airways. The heart was enlarged with ventricular hypertrophy. The limbs were symmetrically and proportionally short and not bent, with talon-like nails on fingers and toes and bilateral absence of the middle phalanx of the index finger. All infants had bilateral talipes equinovarus deformity. The abdomen was protuberant, the gallbladder hypoplastic or absent, the intestine short and partially distended, the uterus hypoplastic, and the Fallopian tubes short. The urinary system was dilated with decreased lobulation of the kidneys. Skin creases were abnormal with wrinkling on trunk, arms, dorsum of the hands, and thighs. The fingers appeared short and tapered. Partial or complete cutaneous syndactyly of all five fingers or syndactyly of the toes with a bilateral sandal gap have been described.

Precautions before anesthesia

Assess for difficult airway management, check cervical spine mobility and look for signs of increased intracranial pressure. Assess the extent of the metopic and anterior fontanelle to determine, which parts of the head need to be protected from direct external pressure. Obtain a chest x-ray and consider hypoplasia of the ...

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