1/44. Oculo-auriculo-vertebral spectrum in klinefelter syndrome.We report a boy with classical 47,XXY klinefelter syndrome (KS) and oculo-auriculo-vertebral spectrum (OAV). Two patients with KS and OAV were reported previously. Also, the combination of bilateral aplasia of the mandibular ramus and condyle and KS has been documented. The present observation supports the view that the cause of hemifacial microsomia appears heterogeneous and that OAV may be part of the spectrum of craniofacial anomalies associated with KS.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
2/44. Craniofacial anomalies, ocular findings, pigmented nevi, camptodactyly, and skeletal changes: a possible new autosomal recessive disorder.A 20-year-old male is described with craniofacial anomalies, ocular findings, pigmented nevi, camptodactyly and skeletal changes. On the basis of the clinical and radiological differences with syndromes previously described we classify the present case as a new faciothoracoskeletal syndrome. Parental consanguinity supports autosomal recessive inheritance.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
3/44. GAPO syndrome: a new case of this rare syndrome and a review of the relative importance of different phenotypic features in diagnosis.The case of GAPO syndrome reported here is the 24th recorded case, 23 cases having been published previously. The 29-year-old male under discussion presents all the typical features of the syndrome, having short stature, dysmorphic craniofacial features, total alopecia and pseudoanodontia. Orally, the erupted primary dentition was extremely worn and on radiographic examination, the second mandibular molars were found to be unerupted, together with the entire permanent dentition. cephalometry revealed the absence of facial pneumatisation, a deficient cranial base with diminished upper face height and maxillary and mandibular hypoplasia with a prognathic skeletal pattern. Histological examination of an extracted primary incisor and its surrounding root bone revealed extensive ankylosis. This paper describes in detail the clinical findings and reviews, and discusses previously published cases in relation to the present one. As with prior cases, parental consanguinity was present in the pedigree.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
4/44. New case of Cole-Carpenter syndrome.We describe a girl with a severe progressive type of osteogenesis imperfecta, in association with multisutural craniosynostosis, growth failure, and craniofacial findings including ocular proptosis, marked frontal bossing, midface hypoplasia, and micrognathia. collagen analysis was normal. These features are consistent with the diagnosis of Cole-Carpenter syndrome. This report provides further evidence for the existence of this rare genetic entity.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
5/44. Fraser-cryptophthalmos syndrome.Fraser or Cryptophthalmos syndrome is a variable syndrome to the extent that cryptophthalmos might not be present in all cases. However, the main features are a "hidden eye", other craniofacial abnormalities, renal abnormalities, syndactyly and abnormal genitalia. It may be classified as isolated cryptophthalmos or cryptophthalmos sequence and cryptophthalmos syndrome. The cryptophthalmos syndrome has an autosomal recessive mode of inheritance. Isolated cryptophthalmos has been reported as an autosomal dominant trait. prenatal diagnosis is possible using ultrasonography and fetoscopy. We report three cases of cryptophthalmos. One with renal agenesis had cryptophthalmos syndrome and the other two had isolated cryptophthalmos or cryptophthalmos sequence.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
6/44. Case of complex craniofacial anomalies, bilateral nasal proboscides, palatal pituitary, upper limbs reduction, and amnion rupture sequence: disorganization phenotype?We report a case of a dizygotic twin with complex abnormalities of head, body, and limbs. The anomalies include the following: lateral and midline cleft upper lip, ectopic palatal pituitary, natal teeth, bilateral nasal proboscides with an absent nose, left microphthalmia with conjunctival-lined cyst, right ocular dysgenesis, bilateral retinal dysplasia, platybasia with skull asymmetry, hydrocephalus secondary to aqueductal atresia, brain hemispheric asymmetry with a parietal-occipital cortical flap, agenesis of posterior corpus callosum, absence of the olfactory nerves and left anterior cerebral artery, leptomeningeal and intraventricular heterotopias, right radial longitudinal terminal meromelia with constriction rings of fingers, partial syndactyly of the third and fourth left fingers, dorsiflexed great toes and pes equinovarus bilaterally, and multiple skin tags with a sacral appendage. Additionally, this twin's placental disc and extraplacental membranes were devoid of amnion. We regard these anomalies as a possible expression of the human homologue of the disorganization phenotype or another gene mutation. Nevertheless, an abnormality of blastogenesis with early damage to organizing tissues of the frontonasal region and limbs, or a vascular disruption, cannot be excluded. Early amnion rupture sequence (possible extraamniotic pregnancy with amniotic bands, limb reduction defects with Streeter bands, and multiple skin tags tapering into amniotic bands) was also present in this case, and may have acted as a contributing factor.- - - - - - - - - - ranking = 4keywords = craniofacial (Clic here for more details about this article) |
7/44. fraser syndrome with bladder pseudoexstrophy.We report a one year old girl with fraser syndrome (the association of craniofacial abnormalities, syndactaly and cryptophlamos) and multiple urogenital abnormalities including clitorimegaly, left renal agenesis and a unique urinary bladder exstrophy variant (psuedoexstrophy) with intact bladder which herniates through the lower abdominal wall defect.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
8/44. Anomalous medial rectus muscle insertion in a child with craniosynostosis.INTRODUCTION: Oblique and vertical rectus muscle anomalies have been commonly reported in patients with craniofacial syndromes, while horizontal rectus muscle anomalies have been uncommonly reported. methods: Case report of a child with Crouzon's Syndrome who was found to have an anomalous medial rectus muscle insertion at surgery. RESULTS: A bifid left medial rectus muscle insertion was found at surgery, requiring a small modification of the planned surgical procedure. CONCLUSION: Anomalies of extraocular muscles may be present in patients with craniofacial syndromes and strabismus surgeons should be prepared to modify their surgical plan when anomalous extraocular muscles are found.- - - - - - - - - - ranking = 2keywords = craniofacial (Clic here for more details about this article) |
9/44. Mental retardation, obesity, mandibular prognathism with eye and skin anomalies (MOMES syndrome): a newly recognized autosomal recessive syndrome.We report two daughters of a Thai family affected with mental retardation, delayed speech, obesity, craniofacial manifestations, and ocular anomalies. Craniofacial manifestations included macrocephaly, maxillary hypoplasia, mandibular prognathism, and crowding of teeth. Ocular anomalies consisted of blepharophimosis, blepharoptosis, decreased visual acuity, abducens palsy, hyperopic astigmatism, and accommodative esotropia. Chronic atopic dermatitis, lateral deviation of the great toes, and cone-shaped epiphyses of the toes were observed. The disorder is suggested to be autosomal recessive. The combination of findings found in our patients has not hitherto been described.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
10/44. New mental retardation syndrome associated with ocular colobomas, cleft palate, and genital, skeletal, and craniofacial abnormalities.We describe three Canadian brothers of Cree origin, with a previously undescribed pattern of malformation including distinctive craniofacial abnormalities with triangular facies, hypertelorism, low-set and posteriorly rotated ears, ocular colobomas, ptosis, brachycephaly with widely separated sutures, cleft soft palate, undescended testes, bifid scrotum and hypospadius, wide webbed neck, webbed fingers, pectus excavatum and hypersegmented sternum, and severe psychomotor retardation. The presence of normal brain imaging and physical growth distinguishes them from other syndromes with overlapping abnormalities. This is either an X-linked or autosomal recessive condition.- - - - - - - - - - ranking = 5keywords = craniofacial (Clic here for more details about this article) |
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