1/17. New syndrome of growth and mental retardation, structural anomalies of the central nervous system, and first branchial arch, anophthalmia, heminasal a/hypoplasia, and atypical clefting: report on four Brazilian patients.We report on four unrelated Brazilian patients with growth and mental retardation, structural anomalies of the central nervous system (CNS), mainly callosal agenesis, prominent forehead, facial asymmetry, anophthalmia, heminasal a/hypoplasia, preauricular skin tags, structural anomalies of the external ears, and atypical clefting. This combination of anomalies is unique and, to our knowledge, is a previously undescribed syndrome of unknown etiology, although one of the patients was born to a consanguineous couple, suggesting the possibility of autosomal recessive inheritance. Clinical, genetic, and differential diagnosis aspects are discussed.- - - - - - - - - - ranking = 1keywords = hypoplasia (Clic here for more details about this article) |
2/17. Pulsatile expansion therapy for orbital enlargement.Experimental and clinical investigations have documented the modulatory role of the globe in the development of the orbit. In cases of absence or early loss of the globe, severe hypoplasia of the orbit and midface has been reported by several authors. Statical conformers and orbital osteotomies have been used to correct the resulting facial asymmetry. When replacing such conformers by increasingly larger ones, orbital structures are negatively influenced by the repeated trauma of surgical interventions. Simulating the modulatory role of the globe on orbital growth was the objective when developing a pulsatile device for orbital enlargement in cases of anophthalmia and microrbitism. The design, application and preliminary experience with a dynamic, pulsatile expanding system are presented.- - - - - - - - - - ranking = 0.2keywords = hypoplasia (Clic here for more details about this article) |
3/17. Newborn with anophthalmia and features of Fryns syndrome.We report a newborn female with craniofacial malformations, bilateral anophthalmia, large abnormally shaped ears, short neck, small distal phalanges and nails, left diaphragmatic hernia, hypoplastic optic nerves, severe pulmonary hypoplasia, and an accessory spleen, and describe the autopsy findings. The infant expired at 18 h of life. The features were most consistent with Fryns syndrome although other conditions were considered including Matthew wood syndrome. Anophthalmia, to our knowledge, has not been reported previously in Fryns syndrome; however, eye findings are common, particularly microphthalmia and cloudy cornea.- - - - - - - - - - ranking = 0.2keywords = hypoplasia (Clic here for more details about this article) |
4/17. Unilateral clinical anophthalmia with optic nerve hypoplasia in the fellow eye.We present the clinical and radiologic findings of two cases of clinical anophthalmia in one eye and optic nerve hypoplasia in the other eye. We propose possible causes of this rare finding.- - - - - - - - - - ranking = 1keywords = hypoplasia (Clic here for more details about this article) |
5/17. A newborn with anophthalmia and pulmonary hypoplasia (the Matthew-wood syndrome).The combination of anophthalmia and pulmonary hypoplasia with abnormal lobation is an extremely rare congenital disorder. We describe a case of a female newborn with these features that fits the recently described Matthew-wood syndrome.- - - - - - - - - - ranking = 1keywords = hypoplasia (Clic here for more details about this article) |
6/17. Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies.Anophthalmia and pituitary gland hypoplasia are both debilitating conditions where the underlying genetic defect is unknown in the majority of cases. We identified a patient with bilateral anophthalmia and absence of the optic nerves, chiasm and tracts, as well as pituitary gland hypoplasia and ear anomalies with a de novo apparently balanced chromosomal translocation, 46,XY,t(3;14)(q28;q23.2). Translocation breakpoint analysis using FISH and high-resolution microarray comparative genomic hybridization (CGH) has identified a 9.66 Mb deleted region on the long arm of chromosome 14 which includes the genes BMP4, OTX2, RTN1, SIX6, SIX1, and SIX4. Three other patients with interstitial deletions involving 14q22-23 have been described, all with bilateral anophthalmia, pituitary abnormalities, ear anomalies, and a facial phenotype similar to our patient. OTX2 is involved in ocular developmental defects, and the severity of the ocular phenotype in our patient and the other 14q22-23 deletion patients, suggests this genomic region harbors other gene/s involved in ocular development. BMP4 haploinsufficiency is predicted to contribute to the ocular phenotype on the basis of its expression pattern and observed murine mutant phenotypes. In addition, deletion of BMP4 and SIX6 is likely to contribute to the abnormal pituitary development, and SIX1 deletion may contribute to the ear and other craniofacial features. This indicates that contiguous gene deletion may contribute to the phenotypic features in the 14q22-23 deletion patients.- - - - - - - - - - ranking = 1.2keywords = hypoplasia (Clic here for more details about this article) |
7/17. An infant with diaphragmatic hernia, anophthalmia and cardiac defect: evaluation by magnetic resonance imaging autopsy.We present an infant with diaphragmatic hernia, anophthalmia and cardiac defect evaluated by magnetic resonance imaging (MRI) autopsy. This female infant was born at 39th weeks by vaginal delivery and presented with diaphragmatic hernia, anophthalmia, cardiac defect and died due to respiratory problems at 28th hours of life. MRI autopsy showed internal organ abnormalities including congenital hernia of the left diaphragm, secondary hypoplasia of the left lung, atrial and ventricular septal defect, dilatation of calices of the kidneys, bilateral anophthalmia, hypoplasia of the optic nerves, hyperintensity of pituitary gland possibly due to bleeding and a cyst of the septum pellucidum. This article shows that MRI autopsy is a valuable method for the evaluation of cases with congenital anomalies if autopsy is not possible.- - - - - - - - - - ranking = 0.4keywords = hypoplasia (Clic here for more details about this article) |
8/17. Anophthalmia in the focal dermal hypoplasia syndrome.We examined an orbital exenteration specimen from an anophthalmic patient with focal dermal hypoplasia. Eyelid angiofibromas were evident and immunoperoxidase studies for human papilloma virus were negative. Orbital tissue contained a ductal cyst, chronic inflammation of the lacrimal duct and sac, rudimentary conjunctival fornices, lacrimal gland, striated muscle, and adipose tissue. Microscopic examination revealed a posteriorly located cystic structure with uveal and lens remnants. Neuroectodermal structures consistent with retina, optic nerve, or meninges were not observed, thus representing true anophthalmia. These findings remain as the only histopathologic description of ocular tissues in patients with focal dermal hypoplasia.- - - - - - - - - - ranking = 74.371429118579keywords = dermal hypoplasia, focal dermal hypoplasia, hypoplasia, focal (Clic here for more details about this article) |
9/17. anophthalmos and first branchial arch defects.The association of unilateral mandibulofacial dysostosis and anophthalmos at the same side is reported. The proband presented at the age of six months with: right anophthalmos and hypoplasia of the orbit at the same side, hypoplasia of the right mandible and maxilla, right external ear deformity, cyanotic heart disease, hemivertebrae, cataract and corneal opacity in the left eye. This case shows the maximal effect of the abnormal development of the first branchial arch (the mandible, maxilla, and ears) on the globe and the orbit. The other end of the spectrum in which the minimal effect on the globe was present (unilateral absence of choriocapillaris and retinal pigment epithelium inferiorly) was reported by Cotlier & Alghadyan in 1981. This supports the concept that abnormal development of the mandible may influence the development of the orbit and the globe. The extent of the influence of the abnormal developing first branchial arch on the eye is discussed.- - - - - - - - - - ranking = 0.4keywords = hypoplasia (Clic here for more details about this article) |
10/17. Pulmonary hyperplasia in the Fraser cryptophthalmos syndrome.We report on 2 sibs with the Fraser cryptophthalmos syndrome who had pulmonary hyperplasia and laryngeal stenosis. A third unrelated patient with fraser syndrome had laryngeal stenosis, renal agenesis, and normal lung development, rather than the expected pulmonary hypoplasia. Three additional cases of pulmonary hyperplasia in the fraser syndrome were ascertained from a review. In all of these cases the likely mechanism for pulmonary hyperplasia is retention of fetal lung fluid by laryngeal or tracheal obstruction.- - - - - - - - - - ranking = 0.2keywords = hypoplasia (Clic here for more details about this article) |
| | Next -> |