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11/676. scoliosis secondary to cerebrocosto-mandibular syndrome. A case report with surgical management.

    STUDY DESIGN: A case report of scoliosis secondary to cerebrocosto-mandibular syndrome. OBJECTIVES: To bring about awareness of the scoliosis and respiratory problems associated with this rare syndrome. SUMMARY OF BACKGROUND DATA: Of the approximately 50 cases of this syndrome previously reported, only 3 involved scoliosis, and only 1 of these required surgery (but the patient expired). methods: A retrospective chart was made, and a radiologic review were done. RESULTS: A successful surgical outcome was achieved, despite severe preoperative curvature (112 degrees scoliosis) and diminished pulmonary function (21% vital capacity). CONCLUSION: This syndrome can be associated with progressive scoliosis but can be managed successfully with surgery. ( info)

12/676. Aplasia of the vertex without scalp defect.

    We report a case of an extremely rare craniofacial condition, which, to our knowledge, has previously been reported once only. A male infant presented with a giant congenital bone defect of the skull, in the vertex region (10 x 20 cm) and without scalp deficiency. Minimal turricephaly and moderate orbital hypertelorism were associated with slight limb abnormalities, but psychometrical assessments appeared normal. Nonsurgical treatment was initially decided upon, but spontaneous reossification was so moderate that skull reconstruction was carried out at 28 months of age because of the risk of trauma. A full-size resin cephalic skeletal reconstruction was obtained according to three-dimensional computed tomography using stereolithographic techniques. A titanium plate was customized on the resin model for ideal adaptation to the convex skull defect (8 x 16 cm). Surgery was simply performed, consisting of a preliminary undermining between the dura mater and the scalp and screwing of the custom titanium plate. The initial follow-up was uneventful. ( info)

13/676. Tessier type VI-VII cleft combination associated with congenital bimaxillary fusion and anophthalmia.

    Congenital intermaxillary fusion is a rare anomaly. Combination of the anomaly with any type of facial cleft is extremely rare. death in a majority of these patients as a result of feeding and aspiration problems in early life may have caused the reports to be limited. In this article a 5-year-old patient, probably the first in the literature having Tessier type VI-VII facial cleft combination associated with bimaxillary fusion and anophthalmia on the right side, is presented. The patient has survived on fluid meal through a very small opening for 5 years. The features of the case are presented, and the time and method of the management of such a rare anomaly are discussed with a review of the literature. ( info)

14/676. Fetal craniofacial structure and intracranial morphology in a case of Apert syndrome.

    Apert syndrome is characterized by craniosynostosis, midfacial hypoplasia and bilateral syndactyly. We document in detail the intrauterine natural history of Apert syndrome by serial sonographic examination. Ultrasound examination of a 19-week fetus revealed an abnormal appearance of the skull. The subsequent examination including transvaginal brain scanning demonstrated a deformed occipital part of the cerebrum and lateral ventricles, frontal bossing, a low nasal bridge and an abnormal appearance of the fetal hands and feet. The distortion of the fetal profile became progressively worse with advancing gestation. Towards the end of pregnancy, anterior prominence of the cerebrum, ventricles and corpus callosum was demonstrated and mild non-progressive ventriculomegaly was seen. The female 3152-g newborn with the typical facial appearance of Apert syndrome, bilateral syndactyly of the fingers and toes and isolated cleft palate was delivered at 37 weeks. Postnatal three-dimensional computed tomography scan demonstrated the fusion of the coronal suture and a wide mid-line calvarial defect, and cranial magnetic resonance imaging confirmed the prenatal sonographic findings. Although the karyotype was normal, genomic dna analysis of the fibroblast growth factor receptor 2 revealed Ser252Trp, which is specified in the mutational basis of Apert syndrome. The time course of the prenatal findings in this case may help increase understanding of the intrauterine natural history of Apert syndrome. ( info)

15/676. The smith-magenis syndrome: a new case with infant spasms.

    The smith-magenis syndrome (SMS) is characterized by congenital anomalies, mental retardation and the interstitial deletion of the 17p. 11.2 chromosome. The subjects affected by this syndrome show cranio-facial dysmorphias, brachycephalia, skeletal, ocular, cardiac, genitourinary and otolaryngological anomalies. The central nervous system is affected and this may be shown by psychomotor retardation, intellective deficit, electroencephalographic alterations (reduced/missing REM phase); the neuroradiological tests detect megacisterna magna, cerebellar hypoplasia, cortical dysplasia, ventricular asymmetry. Behavioural troubles are frequent and, among them, self-aggressive conducts (tearing out the nails). The syndrome is associated with the interstitial deletion of the 17p. 11.2 chromosome. The diagnosis can be made in the pre-natal period and a mosaic situation is possible. Even though the cases of SMS reported in the literature allow defining a characteristic phenotype, studies have been carried out to quantify the deletion of the chromosome 17 in order to identify the chromosomic tract which is responsible for the phenotypical induction. The deletion can either appear de novo or come from one of the parents. In addition, these subjects can show peripheral neuropathy, missing or reduced deep tendon reflexes and (rarely) epileptic crises. However, by reviewing the literature, no descriptions of patients affected by infant spasms are pointed out. This report refers to a new case of smith-magenis syndrome in a nine-month-old girl with spasms in extension. ( info)

16/676. Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.

    holoprosencephaly (HPE) is a common, severe malformation of the brain that involves separation of the central nervous system into left and right halves. Mild HPE can consist of signs such as a single central incisor, hypotelorism, microcephaly, or other craniofacial findings that can be present with or without associated brain malformations. The aetiology of HPE is extremely heterogeneous, with the proposed participation of a minimum of 12 HPE-associated genetic loci as well as the causal involvement of specific teratogens acting at the earliest stages of neurulation. The HPE2 locus was recently characterized as a 1-Mb interval on human chromosome 2p21 that contained a gene associated with HPE. A minimal critical region was defined by a set of six overlapping deletions and three clustered translocations in HPE patients. We describe here the isolation and characterization of the human homeobox-containing SIX3 gene from the HPE2 minimal critical region (MCR). We show that at least 2 of the HPE-associated translocation breakpoints in 2p21 are less than 200 kb from the 5' end of SIX3. Mutational analysis has identified four different mutations in the homeodomain of SIX3 that are predicted to interfere with transcriptional activation and are associated with HPE. We propose that SIX3 is the HPE2 gene, essential for the development of the anterior neural plate and eye in humans. ( info)

17/676. Midface distraction.

    Since the initial application of distraction osteogenesis to the human mandible by McCarthy, distraction osteogenesis has been used for gradual lengthening of the midface in children with syndromic craniosynostosis, cleft lip and palate, hemifacial microsomia, and midface hypoplasia from other causes. Both external and internal devices are available that permit midface distraction. The background of midface distraction and the development of a Modular Internal Distraction (MID) system that permits widespread use of easily customized, buried distraction devices throughout the craniofacial region are presented. The relative and potential clinical indications for distraction, treatment planning, patient preparation, and possible surgical orthodontic interactions during distraction, as well as a variety of case examples showing the MID system, are discussed. ( info)

18/676. The effect of growth hormone treatment on stature in Aarskog syndrome.

    We describe 19 males with Aarskog syndrome who were treated with growth hormone (GH) and enrolled in the National Cooperative Growth Study (NCGS). There was a significant increase in both growth rate (3.9 /- 1.9 cm/yr vs 8.9 /- 1.7 cm/yr, p < 0.001) and height SD score (change in HtSDS = 1.0 /- 0.8). The increase in HtSDS was dependent on treatment duration, frequency of injections, weight-for-height SDS, and HtSDS at enrollment. The results of our study suggest a positive effect of GH treatment on growth and adult height in Aarskog syndrome patients. ( info)

19/676. Distraction osteogenesis in silver Russell syndrome to expand the mandible.

    Distraction osteogenesis is a method commonly used to activate bone regeneration in nonunions and osseous defects and for lengthening procedures of tubular bones. This technique involves the sectioning of a bone and the subsequent deliberate, controlled movement of the opposing sectioned edges to lengthen, widen, or reposition a bone, or all three. In this report, a patient with silver Russell syndrome and severe mandibular hypoplasia was treated by means of distraction osteogenesis of the midsymphysis to widen the mandible in concert with sagittal-ramus osteotomies to lengthen the mandible. This treatment created significantly increased arch length in the mandible, which was necessary to facilitate the patient's orthodontic treatment. We believe this is the first reported case of distraction osteogenesis to widen the mandible with the use of a tooth-borne appliance. ( info)

20/676. Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?

    We report on four unrelated cases of an Opitz trigonocephaly (C)-like syndrome with a highly characteristic combination of facial anomalies including prominent metopic suture, exophthalmos, hypertelorism, cleft lip and palate, flexion deformities of the upper limbs and multiple other anomalies. We also review two very similar published cases formerly considered to have the C syndrome. Although there is overlap, a clinical distinction from the Opitz trigonocephaly and other syndromes seems possible, and thus a specific causal entity may be postulated. ( info)
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