Normal Facial Appearance Research Articles

Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two families.

We report on two families with autosomal dominant brachydactyly of hands and feet and hypertension. All affected members of the first family had proportionate short stature. However, the propositus and the affected relatives in the second family were only short compared to unaffected relatives. The hypertension was medically responsive in all cases. The propositus in the second family had poor compliance and a striking generalized vasculopathy. All patients were of normal intelligence and had a normal facial appearance. The brachydactyly-short stature-hypertension syndrome was first reported by Bilginturan et al. [1973] in a Turkish family and the families reported by us are Caucasian and Hispanic. The gene causing this condition in the original Turkish family was recently mapped to 12p. Our report expands our existing knowledge and the ethnic diversity of this syndrome.

Orthognathic surgery for the cleft lip and palate patient

A thoughtful staged reconstruction for the cleft lip and palate patient is the preferred approach. The primary lip and palate repair performed during infancy and early childhood provides the foundation for normal speech, occlusion, facial appearance, and self-esteem. A long-term negative effect of these early surgical interventions is a significant incidence of maxillary growth restriction that produces secondary deformities of the jaws and dentition. This article reviews the variations in presentation, surgical and orthodontic techniques, and the results that we have achieved in patients born with a cleft who underwent primary repair in childhood, had a jaw deformity and malocclusion in adolescence, and underwent orthognathic surgery combined with orthodontic treatment for facial reconstruction and dental rehabilitation.

Reconstruction of electrical burns of the oral commissure with a ventral tongue flap.

Reconstruction of the oral commissure following electrical burn injury is a challenging problem. The commissure is a thin, delicate structure that is highly mobile and essential to normal facial appearance and expression. When there is full-thickness destruction of vermilion, mucosa, skin, and orbicularis muscle, the resulting contracture alters adjacent structures, displaces the commissure, and distorts facial animation. Utilizing a composite ventral tongue flap of mucosa and muscle in the reconstruction of the commissure permits effective release of scar contracture and replaces destroyed mucosa and muscle bulk. Remaining structures can be returned to their normal location, and the three-dimensional contours of the oral commissure can be better restored. The use of this flap in 21 patients has resulted in improved mobility, more normal facial expression, and more consistent results in the reconstruction of a wide range of commissure deformities.

Irreversible muscle contracture after functioning free muscle transplantation using the ipsilateral facial nerve for reinnervation

Four patients who underwent functioning free muscle transplantation (FFMT) for facial reconstruction developed a progressive disfiguring muscle contracture. This complication has not been previously reported. Three of the patients had longstanding facial paralysis and were reanimated by FFMT. The fourth patient had left hemifacial atrophy but without facial paralysis. She also underwent FFMT for augmentation. All four FFMTs were innervated by the ipsilateral facial nerve. Initially, they all had a normal facial appearance at rest during the first few months after FFMT. However, they all developed a progressive severe muscle contracture from 6 to 12 months after FFMT. Continuous spontaneous electrical impulse activity, which stimulated the transferred muscle day and night, may be responsible for the progressive muscle contracture. From the patients' reported sensations and from clinical evaluation, which included a local xylocaine injection test, over-reinnervation with a synkinesis effect of the transferred muscle is hypothetically the main cause, not over-tension of the muscle itself. This complication may possibly be avoided by limiting or decreasing the number of fascicles from the ipsilateral facial nerve or better by using a cross-facial nerve graft instead of the ipsilateral facial nerve as the innervating motor nerve. The outcome with a cross-facial nerve is likely to be more predictable and reliable.

Ring chromosome 5 associated with severe growth retardation as the sole major physical abnormality

We report on a case of ring chromosome 5 in a 36-month-old girl with severe growth retardation, clinodactyly, mild psychological abnormalities, and normal facial appearance. Endocrine tests showed partial growth hormone deficiency. Cytogenetic investigation failed to demonstrate any apparent microscopic deletion of either short or long arm of chromosome 5 as consequence of ring formation. In 12% of cells examined, the ring was either absent or present in multiple copies. Only 3 previous cases of ring chromosome 5 have been reported in association with short stature of prenatal onset and minor anomalies, without mental retardation.

Linkage analysis in a large family with nonspecific X-linked mental retardation.

We report on a large 5-generation family with "nonspecific" X-linked mental retardation. Nine living affected males have an IQ between 50 and 70 but have normal stature, facial appearance, and testicular volumes and no other abnormalities. Two obligate carrier females had borderline intellectual abilities and visual-psychomotor difficulties similar to those seen in affected males. Results of chromosome studies, including fragile X, were normal in males and females. Linkage analysis was undertaken, with 19 X-specific chromosomal restriction fragment length polymorphisms (RFLPs), giving a maximal LOD score of 1.60 at a 0.10 recombination fraction for F9, suggesting a localization to distal Xq for the mutant gene in this family.

Holoprosencephaly in an infant with a minute deletion of chromosome 21(q22.3)

We evaluated an infant because holoprosencephaly had been detected by prenatal ultrasound examination and magnetic resonance imaging (MRI). Postnatally, high-resolution cytogenetic studies showed a minute deletion of chromosome 21(q22.3). This patient lacks many of the characteristics associated with monosomy 21, partial monosomy 21, and ring 21 chromosome patients. She also lacks the midline facial abnormalities often seen with holoprosencephaly. The similarity in facial appearance between this case and one previously reported patient with holoprosencephaly and a ring chromosome 21 suggests a causal relationship between holoprosencephaly and deletion of chromosome 21(q22.3). These findings also suggest that infants and children with developmental delay and apparently normal facial appearance should be examined for holoprosencephaly and that all identified patients with holoprosencephaly need high-resolution cytogenetic studies with careful attention to the terminal portion of 21q.

A new lethal brittle bone syndrome with increased amount of type V collagen in a patient

A new lethal brittle bone disease is described in three patients with slender long bones, thin ribs, hypomineralized calvaria, and normal facial appearance. In spite of several limb fractures this syndrome can be differentiated from the lethal forms of osteogenesis imperfecta and is better related to the thin-bone group of lethal dysplasias. Biochemical investigation of collagen from one of the patients by the use of gel electrophoresis and high-pressure liquid chromatography analyses failed to demonstrate any evident defect in the structure of type I collagen chains. Nevertheless collagen extractability from the dermis was altered owing to an increase in the proportion of acid-soluble material. Tritium-proline labeling of cultured fibroblasts confirmed the reduction in total collagen synthesis. This was attributed to a lower type I and type III amount whereas type V collagen level was markedly increased in the cell layer. RNA analysis of the three collagen types with the appropriate cDNA probes confirmed the protein data. Electron microscopic examination of bone and skin showed morphologically abnormal fibroblasts and osteoblasts with an abundant distended rough endoplasmic reticulum and an altered plasma membrane. Unexpected thin fibrils with a banding pattern and surrounding the type I fibrils were observed. They might represent type V collagen. We suggest that, in this patient, the moderate decrease in type I collagen amount is insufficient to account for the radiological findings and that type V collagen overproduction could play a role in the bone brittleness by interfering with the process of mineralization.

The role of the maxillofacial prosthetist in support of the burn patient

Some of the ways in which the maxillofacial prosthetist can assist in the treatment of burn patients have been presented. The three areas described and illustrated by means of a case report, include the fabrication of study models, graft support and pressure splints, and extraoral prostheses. Study models can serve as aids to diagnosis and treatment planning, as teaching aids, and as models for stent and splint fabrication. Models of the face and neck and of the hands were required for the patient whose treatment was reported. A new type of acrylic resin splint for maintaining head and neck extension following split-thickness grafting procedures also was fabricated for the patient. The splint, constructed of cold-curing acrylic resin tray material and lined with silicone rubber and foam, can be quickly made and custom fitted for the patient. A second splint applied pressure to flatten and smooth hypertrophic scars. When the ears are burned, their replacement with prostheses early in the recovery of the patient will make for a more nearly normal facial appearance, even when plastic reconstruction is anticipated at a later time. Prosthetic ears are readily fabricated in the dental laboratory. The recovery of a burn patient is long and difficult. Assistance by the maxillofacial prosthetist helps to make their recovery more assured.