phenylephrine-hydrochloride and Macrostomia

The Simpson-Golabi-Behmel syndrome (SGBS) is an overgrowth condition characterised by macrosomia, mental deficiency, large head, prominent skull sutures, midface deficiency, hypertelorism, broad nose, wide mouth, macroglossia, malocclusion, highly arched palate, and musculoskeletal and limb abnormalities. The aim of this case report is to present clinical and oral findings of an 8-year-old boy who had been diagnosed with SGBS.. This patient had supernumerary nipples on the right side, cubitus valgus webbed fingers, scoliosis, umbilical hernia, a coarse face, macrocephaly, hypertelorism, a short broad nose, a wide mouth, a straight facial profile and hearing loss. The patient also had macroglossia, diastemas, over-retained primary tooth, absent mandibular permanent central incisors, and highly arched palate. Lateral cephalometric analysis revealed a large anterior cranial base, a large maxilla and mandible, a large inferior face height, and skeletal Class III jaw relationship.. After extraction of the over-retained primary central tooth, a partial prosthesis was fabricated in order to maintain function. The patient has been recalled regularly at 6-month intervals for 2 years. Over the following years the prosthesis was replaced due to facial growth.. Long term follow-up is essential for the patient with SGBS. Preventive dental care, including oral hygiene instructions, diet counselling and the use of fluoride has been implemented.

Topics: Anodontia; Arrhythmias, Cardiac; Cephalometry; Child; Denture, Partial, Removable; Diastema; Follow-Up Studies; Genetic Diseases, X-Linked; Gigantism; Heart Defects, Congenital; Humans; Hypertelorism; Incisor; Intellectual Disability; Macroglossia; Macrostomia; Male; Malocclusion, Angle Class III; Nose; Palate; Tooth, Deciduous

We report on a father to daughter transmission of Barber-Say syndrome (BSS), a rare, congenital disorder characterized by severe generalized hypertrichosis, macrostomia, ocular telecanthus, bulbous nose and atrophic skin. These two cases further support the autosomal dominant inheritance. Both presented with the typical BSS symptoms but the phenotypic expression in the father was milder. Treatment is challenging for both patients and doctors, requiring a multidisciplinary approach.

Topics: Abnormalities, Multiple; Adult; Atrophy; Child; Eye Diseases; Eyelids; Female; Humans; Hypertrichosis; Karyotyping; Macrostomia; Male; Nose; Skin; Syndrome

We report a Brazilian boy, born to normal and nonconsanguineous parents showing, among other signs, brachycephaly, a wide forehead, a widow's peak, hypertelorism, wide palpebral fissures with multiple eyelid colobomas, a broad nasal root, a long philtrum, macrostomia, prominent lips, a high arched palate, a midline alveolar cleft, a small and grooved chin, ear anomalies, structural anomaly of the corpus callosum, and mental retardation. To our knowledge this additional patient defines a particular clinical condition previously reported [Guion-Almeida M.L. Richieri-Costa A. (1999) Clinical Dysmorphol 8;1-4; Masuno M. et al. (2000) Clin Dysmorphol 9:59-60].

Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Child; Coloboma; Diagnosis, Differential; Ear; Eyelids; Family Health; Humans; Intellectual Disability; Macrostomia; Male; Nose; Phenotype

We report a Japanese girl with brachycephaly, a wide forehead, hypertelorism, macroblepharon with eyelid colobomas, ectropion, a broad nasal root, a depressed nasal tip, macrostomia, a small and grooved chin, ear anomalies, a structural anomaly of the corpus callosum, dilatation of the fourth ventricle, a urogenital sinus, and mental retardation. Cause and inheritance are unknown.

Topics: Abnormalities, Multiple; Brain; Child, Preschool; Ear; Eyelids; Female; Humans; Intellectual Disability; Macrostomia; Nose

Topics: Abnormalities, Multiple; Child, Preschool; Consanguinity; Female; Humans; Infant; Intellectual Disability; Macrostomia; Male; Micrognathism; Muscle Hypotonia; Nose; Skull

Topics: Abnormalities, Multiple; Child; Electroencephalography; Female; Humans; Hyperventilation; Intellectual Disability; Macrostomia; Male; Nose; Osteoarthropathy, Secondary Hypertrophic; Syndrome