1/5. cleft palate in a patient with Williams' syndrome.cleft lip or palate has not been reported in the medical literature as a part of Williams' syndrome. We present a patient who had cleft palate among other congenital manifestations. This patient's immediate postnatal period clinically seemed to have a Pierre Robin sequence. With the development of the craniofacial complex, microgenia and micrognathia with glossoptosis gradually became apparent. On further assessment, the patient showed other clinical findings that suggested a syndromic association. This required a complete evaluation to discard other conditions that present with low psychomotor development and distinctive facies, such as Kabuki syndrome or fetal alcohol syndrome. The diagnosis for Williams' syndrome was established based on the clinical features and supported by the fluorescent in situ hybridization test. Williams' syndrome has been described as a rare, congenital disorder characterized by physical and developmental problems. Common features include characteristic "elfin-like" facies, supravalvular aortic stenosis, hypercalcemia, low birth weight, slow weight gain, feeding problems, impulsive and outgoing personality, limited spatial skills and motor control, and intellectual disability. Although individuals with Williams' syndrome may show competence in areas such as language, music, and interpersonal relations, their IQs are usually low and they are considered moderately to mildly retarded.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
2/5. First-trimester diagnosis of micrognathia as a presentation of pierre robin syndrome.We describe a case of first-trimester diagnosis of micrognathia. A transvaginal ultrasound scan performed at 13 weeks' gestation revealed an abnormal fetal facial profile consisting of a small mandible and a receding chin. A subsequent amniocentesis at 15 weeks' gestation revealed a normal karyotype. A morphology scan and subsequent postmortem examination at 19 weeks confirmed the first-trimester findings and revealed, in addition to the facial pathology, a complex cardiac abnormality and unilateral talipes equinovarus. These findings are consistent with the diagnosis of pierre robin syndrome.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
3/5. Pediatric mandibular distraction osteogenesis: the present and the future.Pediatric mandibular distraction osteogenesis (MDO) has become a mainstay of treatment for patients with micrognathia and retrognathia. As craniofacial surgeons have gained experience with MDO, the technique has become a safe and durable means of mandibular lengthening that avoids the significant morbidity of conventional surgical treatments. The full impact of this technique has not yet been realized for pediatric patients. Although studies have confirmed durable reconstruction of mandibular length with MDO, the range of applications of this technique is currently limited. As innovative clinicians continue to apply MDO to pediatric clinical craniofacial problems not easily treated with conventional means, the field of MDO will continue to mature. This article discusses current uses and examples of potential future applications of pediatric MDO. The development of novel and creative applications of MDO will advance the management of complex craniofacial anomalies, taking the field of craniofacial surgery into the future.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |
4/5. Mobius sequence, Robin complex, and hypotonia: severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome.We report on nine unrelated children fitting a diagnosis of Carey-Fineman-Ziter syndrome (CFZS). All children presented with Mobius sequence, Pierre Robin complex (6/9) or micrognathia, and hypotonia. Some had primary hypoventilation, delayed development, and acral anomalies. The neuropathological investigations performed in two patients showed a combination of dysplastic lesions (neuronal heterotopias) and encephaloclastic changes consisting of small foci of necrosis with microcalcifications. The mother of a third child had severe trauma during her 2nd month of pregnancy. Based on a review of the literature on MS and CFZS, we suggest designating as "Robin-Mobius phenotype" a distinct clinical variant of MS with extensive brainstem involvement, Robin complex, hypotonia without specific muscle disorder, clubfeet and variable acral anomalies. This condition appears to bear a higher risk of mental handicap and perhaps a higher recurrence risk than "common" MS. Neuropathology and neuroimaging are suggestive, at least in some cases, of a vascular disruption, which could be exogenous, or secondary to a genetic predisposition. Etiologic heterogeneity seems likely and, in that respect, the original CFZS family could represent a private syndrome fitting on the "Robin-Mobius" spectrum. Despite the existence of two familial reports, recurrence risk is probably much lower than 25%, although exact figures cannot be extracted from the available literature.- - - - - - - - - - ranking = 6keywords = complex (Clic here for more details about this article) |
5/5. Catel-Manzke palatodigital syndrome in a second trimester female foetus with nuchal oedema, costovertebral anomalies and radial ray defect.We present a female fetus with combination of Pierre Robin anomaly and nuchal oedema, bilateral radial defects, multiple hand malformations including bilateral hyperphalangy, brachymesophalangy, costovertebral abnormalities, and complex cardiac malformation. The present findings constitute a true MCA syndrome with uncertain pattern of inheritance.- - - - - - - - - - ranking = 1keywords = complex (Clic here for more details about this article) |