Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3.

To determine whether the autosomal dominant fibroblast growth factor receptor 3 (FGFR3) Pro250Arg mutation causes anterior plagiocephaly, patients with either apparently sporadic unicoronal synostosis (N = 37) or other forms of anterior plagiocephaly (N = 10) were studied for this mutation. Of 37 patients with unicoronal synostosis, 4 tested positive for the Pro250Arg mutation in FGFR3, and 33 were negative for this mutation. In three mutation positive patients with full parental studies, a parent with an extremely mild phenotype was found to carry the same mutation. None of the 6 patients with nonsynostotic plagiocephaly and none of the 4 patients with additional suture synostosis had the FGFR3 mutation. Because it is impossible to predict the FGFR3 Pro250Arg mutation status based on clinical examination alone, all patients with unicoronal synostosis should be tested for it. To assess their recurrence risk, all parents of mutation positive patients should be tested regardless of their clinical findings, because the phenotype can be extremely variable and without craniosynostosis.

A comparison of iliac and cranial bone in secondary grafting of alveolar clefts.

This retrospective study compares the success of iliac versus cranial bone autografts in the secondary grafting of alveolar clefts. The study group was 116 patients with complete records and radiographs from a pool of 186 consecutively grafted patients at Children's Hospital of Philadelphia. The quality of graft "take" was graded radiologically. Variables potentially influencing outcome were evaluated and included graft type (iliac versus cranial bone), cleft type (unilateral versus bilateral), cleft severity (complete unilateral or bilateral cleft lip and palate versus cleft of the alveolus only), age at grafting, and complications. Although graft "take" versus "nontake" seemed comparable in iliac and cranial bone graft groups, iliac bone showed a statistical superiority over cranial bone, with more radiologically excellent grades (p = 0.04) in all cleft types. Likewise, when the two graft types were compared in more severe clefts (complete unilateral and bilateral cleft lip and palate), iliac bone showed statistical superiority (p = 0.02) over cranial bone. However, they seemed comparable in less severe clefts of the alveolus only (p = 0.22). Recipient-site complications and their sequelae were comparable in iliac versus cranial graft groups, and no age-related differences were noted in children grafted above or below age 10.

Facial reconstruction consideration in rheumatic diseases.

In conclusion, the management of facial involvement in JRA, Romberg disease, and scleroderma is dictated by the degree of severity of the disease, age of onset, and length of activity. Functional occlusal abnormalities are best addressed through a team approach consisting of initial orthodontics followed by orthognathic surgery if needed. In all types of scleroderma, surgical facial reconstruction is best delayed until the disease is quiescent for at least a year. The ideal option for facial skeletal and soft-tissue augmentation has not yet been realized. Careful surgical planning and choice of grafts, flaps, or implants are critical to obtain the desired result.

General body growth in children with cleft palate and related disorders: age differences.

Clefts of the lip and palate, separately or in combination, are among the most frequent congenital defects seen today. Their etiology is heterogeneous and may include hormonal factors, which suggest the possibility of growth effects. Whether affected children are smaller than others has not been determined. We recently showed that growth status is associated with type of cleft. We hypothesized genetic alterations in metabolic pathways that alter prenatal growth, producing clefts; some of these alterations also alter postnatal growth. Since the levels of growth-regulating hormones change during ontogeny, we expected age differences in the degree of growth deficit seen. To test this hypothesis, we examine here the cross-sectional means and distributions of standard deviation (z) scores for height and body mass indices (BMIs) for 144 children with the diagnoses unilateral cleft lip and palate (uCLP) and isolated cleft palate (iCP). We find that alteration in growth status is associated with age group as well as sex and diagnosis.

General body growth in children with clefts of the lip, palate, and craniofacial structure.

This paper discusses general body growth in children with craniofacial clefts. Body growth is important in such patients because morphology reflects the cumulation of metabolism over time. The same hormones that direct general body growth also govern the ontogeny of the head and face. Body growth varies in children with different types of clefts. We found no average differences from US norms for those with isolated clefts of the lip alone or those with bilateral clefts of the lip and palate. Children with unilateral clefts of the lip and palate and with isolated cleft palate were significantly shorter than their unaffected peers. Males with these defects were also thinner than normal based on average standard deviation scores for body mass indices. Both unilateral and bilateral clefts of the lip and palate predominated in males, while isolated cleft lip was more frequent in females. Our results indicate that congenital metabolic variation contributes to the development of orofacial clefting and influences postnatal development in certain types of cleft. Accordingly, cleft type is important to growth prognosis, and growth status is relevant to optimization of therapy in orofacial cleft patients.