Long-term studies of metopic synostosis: frequency of cognitive impairment and behavioral disturbances.

Although the occurrence of cognitive impairment and behavioral disturbances in patients with metopic synostosis has been described, the incidence of this dysfunction has not been established. The records of 36 consecutive children with metopic synostosis followed at one craniofacial center from 1978 to 1993 were reviewed and parental questionnaires were completed to establish the frequency of mental retardation, learning disabilities, and behavioral problems associated with this synostosis. Documentation of syndromes, abnormal karyotype, and central nervous system anomalies also was done. The study group consisted of 27 males and 9 females. The average age at most recent follow-up was 7 years and 1 month (range 6 months to 22 years). Two patients had chromosomal abnormalities (9p syndrome and trisomy 21). On the basis of CT and MRI scans, intracranial anomalies were identified for only one patient having an absent corpus callosum. Thirty-two of the study patients had adequate information for longitudinal assessment. Twenty patients have normal development without apparent disability. Of these, those of school age are at appropriate grade level. Eight patients have mild to moderate learning disabilities or behavioral problems, including attention deficit/hyperactivity disorder and impaired language development. Four patients have significant mental impairment. Impaired cognitive development was not limited to children with abnormal karyotype or central nervous system anomaly. Cognitive and behavioral abnormalities occur in at least a third of patients with metopic synostosis. The, at times, subtle nature of these abnormalities mandates longitudinal developmental and neurologic evaluation for infants with metopic synostosis.

Pediatric management of Robin sequence.

The care of infants with Robin sequence is discussed with special reference to upper airway obstruction and feeding difficulties. The use of nasopharyngeal tubes is recommended initially to alleviate the immediate consequences of hypoxia. Modifications in feeding procedures are minor and involve enlarging the hole in the nipple and keeping the nipple and infant positioned appropriately.

Pharyngeal flap surgery: postoperative complications.

Using a protocol specifically designed to decrease the risk factors for postoperative morbidity and upper airway obstruction, we have essentially eliminated major complications after pharyngeal flap surgery while maintaining excellent speech results. The protocol includes inserting a short pharyngeal flap into a tissue "sandwich" and keeping an NP tube in place for 48 hours postoperatively. The complications reduced by use of this protocol include apnea and other upper respiratory complications, as well as bleeding. In addition, postoperative discomfort is decreased with the current protocol. Using this approach, pharyngeal flap surgery is highly effective in improving speech and is associated with low morbidity.

Male-to-male transmission of Robinow's syndrome. Its occurrence in association with cleft lip and cleft palate.

The inheritance of Robinow's syndrome has been thought to be autosomal dominant. However, since no cases of male-to-male transmission have been reported, it has been impossible to rule out X-linked dominant inheritance. We studied a case of male-to-male transmission in a father and son with Robinow's syndrome and cleft lip-cleft palate, confirming autosomal dominant inheritance in at least some cases.

The penetrance and variable expression of the Van der Woude syndrome: implications for genetic counseling.

The presence of congenital fistulae in the lower lip in combination with cleft lip, cleft palate, or both is diagnostic of the Van der Woude syndrome. This autosomal dominant syndrome had been reported to have a penetrance of 80% with variable expression. An analysis of eleven families with 67 affected individuals showed variable expression of clefting and lower lip pits. However, penetrance was found to be close to 100%. An approach to counseling advocates advising a 50% chance of inheriting the gene for Van der Woude syndrome.

A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome.

This report describes a pattern of similarities among 12 patients which are felt to represent a newly recognized congenital malformation syndrome. The symptoms shown most consistently by the 12 patients were overt or submuscous clefts of the secondary palate, ventricular septal defects, typical facies, and learning disabilities. Other symptoms were noted with varying frequency. The occurrence of velopharyngeal insufficiency in all twelve patients reflected poor motion in the lateral pharyngeal walls, thus necessitating specific forms of treatment. Treatment was often dependent on the extent of cardiac lesions.