ABSTRACT
A ten-year-old boy, who had the typical dental findings of dysosteosclerosis such as yellowish, hypoplastic teeth, retarded eruption, which upon eruption, decayed rapidly, is presented. To date this is the first known case reported with a congenital absence of the first permanent molars. Furthermore, SEM evaluation of the enamel and dentin was performed on a tooth from a patient with dysosteosclerosis for the first time. These studies showed weak ultrastructural compositions due to irregular calcification.
Subject(s)
Osteosclerosis/complications , Tooth Abnormalities/etiology , Anodontia/etiology , Child , Dental Care for Disabled , Dental Caries/etiology , Dental Enamel Hypoplasia/etiology , Dental Enamel Hypoplasia/pathology , Dentin Dysplasia/etiology , Dentin Dysplasia/pathology , Humans , Male , Molar/abnormalities , Osteosclerosis/pathology , Tooth EruptionABSTRACT
Lenz microphthalmia syndrome was first described by Lenz et al in 1955. The cardinal features of the syndrome are microphthalmia or anophthalmos, narrow shoulders, other skeletal anomalies, and dental and urogenital malformations. Here we present a case of Lenz microphthalmia syndrome who shows the typical characteristics and, additionally, dysgenesis of the corpus callosum associated with dilatation of the lateral ventricles. The patient, a 13 year old male, was referred to our hospital by a dental hospital for genetic counselling. On physical examination, height, weight, and head circumference were below the 3rd centile and he had brachymicrocephaly, a preauricular tag, microphthalmia, missing teeth, narrow shoulders, long, proximally placed thumbs, hypospadias, cryptorchidism, and a normal IQ. Ophthalmological examination showed microcornea, sclerocornea, absence of the pupil, no vision in the left eye and decreased vision and a small pupil in the right eye in addition to his bilateral microphthalmia. Cranial MRI showed dilatation of the lateral ventricles and dysgenesis of the corpus callosum.
Subject(s)
Agenesis of Corpus Callosum , Microphthalmos , Abnormalities, Multiple , Adolescent , Craniofacial Abnormalities/pathology , Humans , Magnetic Resonance Imaging , Male , SyndromeABSTRACT
Severely involved female child with Multiple Pterygium Syndrome (Escobar) is described. She had the typical findings of the syndrome such as multiple pterygiums, characteristic facial appearance, genital anomalies. She also had bilateral optic atrophy. This is the first case described so far with optic atrophy in Multiple Pterygium Syndrome (Escobar).
Subject(s)
Abnormalities, Multiple/diagnosis , Face/abnormalities , Genitalia, Female/abnormalities , Optic Nerve/pathology , Pterygium/diagnosis , Arm/abnormalities , Atrophy , Child , Consanguinity , Female , Foot Deformities, Congenital/diagnosis , Humans , Spine/abnormalities , SyndromeABSTRACT
The Schinzel-Giedion syndrome is a rare autosomal recessive condition with typical facial features, skeletal manifestations and congenital hydronephrosis and/or hydroureter. We report a male infant with Schinzel-Giedion syndrome, also showing the karyotypic abnormality 47,XXY. Agenesis of the corpus callosum and laryngeal stenosis were determined at autopsy. Besides typical Schinzel-Giedion syndrome, our propositus was found to be affected by Klinefelter syndrome. This represents a fortuitous anomaly, which is probably of no importance in the phenotype of the patient.
