ABSTRACT
In this report we describe an 8-year-old boy of Algerian origin with profound sensorineural deafness and skin pigmentation anomalies consistent with the diagnosis of hypomelanosis of Ito. On the basis of this observation the etiologic heterogeneity of this condition is discussed.
Subject(s)
Abnormalities, Multiple/genetics , Deafness/genetics , Intellectual Disability/genetics , Pigmentation Disorders/genetics , Abnormalities, Multiple/diagnosis , Child , Deafness/diagnosis , Humans , Intellectual Disability/diagnosis , Male , Mutation/genetics , Pigmentation Disorders/diagnosis , SyndromeABSTRACT
In this paper we present the results of an etiological study in 155 hearing-impaired children and young adults, born between 1960 and 1984, inmates of the IRSA institute (Royal Institute for Deaf and Blind children). Special reference to genetic factors was given. One third of the inmates of this institute were children of immigrants, the majority Italians and North-Africans. The study revealed the following classification for the Belgian pupils: hereditary deafness 22.9%; acquired deafness 44.9% and deafness of unknown origin 32.1%; in the group of immigrants, it was 39.1%, 45.6% and 15.2%, respectively. Six of the 45 patients with a genetic form of deafness presented a distinct syndrome, Usher syndrome (2 patients) being the most frequent. Autosomal dominant inheritance was present more often in the deaf population than in the hearing-impaired population (hearing loss below 80 db), but the difference was not statistically significant. Even after 1980 congenital rubella remained the most frequent exogenous factor causing congenital deafness and, furthermore, we documented for the first time in a retrospective study cytomegalovirus infection as a cause of hearing loss. Atypical retinal abnormalities not related to congenital rubella syndrome were found in 10 inmates by systematic ophthalmological examination: 7 in the unknown group, 1 in the genetic group and 2 in the acquired (meningitis) group.
Subject(s)
Hearing Loss, Sensorineural/etiology , Child , Child, Institutionalized , Cohort Studies , Cytomegalovirus Infections/complications , Education, Special , Female , Genes, Dominant , Hearing Loss, Sensorineural/classification , Hearing Loss, Sensorineural/genetics , Humans , Male , Retrospective Studies , Rubella Syndrome, Congenital/complicationsABSTRACT
In this report we describe two families with variable manifestations of the EEC syndrome. The findings in these families confirm that no symptom is obligatory for the diagnosis of EEC syndrome. In the absence of cleft lip/palate, EEC patients have a characteristic facial morphology with maxillary hypoplasia, short philtrum, and broad nasal tip.
Subject(s)
Foot Deformities, Congenital/genetics , Hand Deformities, Congenital/genetics , Adult , Anodontia/diagnosis , Anodontia/genetics , Child, Preschool , Facial Expression , Female , Foot Deformities, Congenital/diagnosis , Hand Deformities, Congenital/diagnosis , Humans , Infant, Newborn , Male , SyndromeABSTRACT
In this paper we report the results of a genetic-diagnostic survey of 274 institutionalized moderately mentally retarded adult males and compare these data with those from our previous studies in the severely mentally retarded and from a comparable population of 262 institutionalized moderately mentally retarded males and females (The Borgenstein experience). Special attention is paid to the nosology of X-linked mental retardation and familial mental retardation in general.
Subject(s)
Intellectual Disability/genetics , Belgium , Central Nervous System/pathology , Chromosome Aberrations/diagnosis , Chromosome Disorders , Fragile X Syndrome , Genes, Dominant , Genes, Recessive , Humans , Intellectual Disability/etiology , Intellectual Disability/pathology , Male , Meningitis/complications , Syndrome , X ChromosomeABSTRACT
In this report we describe the association of retinitis pigmentosa, hearing loss and vitiligo in two non-related patients. The second patient developed, in addition, an axonal polyneuritis after the age of 30. Previous reports dealing with this unusual combination of symptoms are discussed.
Subject(s)
Deafness/complications , Hearing Loss, Sensorineural/complications , Retinitis Pigmentosa/complications , Vitiligo/complications , Adult , Deafness/genetics , Genetic Counseling , Genetic Testing , Hearing Loss, Sensorineural/genetics , Humans , Male , Retinitis Pigmentosa/genetics , Vitiligo/geneticsABSTRACT
In this report we summarize the results of a genetic-diagnostic survey of an institutionalized population of 158 severely mentally retarded patients. The etiological study was based on a clinical genetic approach with special attention to dysmorphology and neurological findings. In 72 patients a constitutional cause of their mental impairment was found: a chromosomal abnormality in 21, a Mendelian disorder in 36 (autosomal recessive disorder: 23; autosomal dominant: 12; and X-linked recessive: 1), a MCA/MR syndrome in 9, and a CNS malformation in 6 patients. In 33 patients, a pre- or perinatal cause was found, and 20 patients presented a pre- or perinatal infection of the CNS. Finally, no etiological diagnosis was detected in 28 patients; 6 of them presented a hitherto unclassifiable type of familial mental retardation.
Subject(s)
Chromosome Aberrations/genetics , Institutionalization , Intellectual Disability/genetics , Adolescent , Adult , Belgium , Child , Child, Preschool , Chromosome Disorders , Down Syndrome/genetics , Fragile X Syndrome/genetics , Genes, Dominant , Genes, Recessive , Humans , KaryotypingABSTRACT
In the present report we describe a 98/12-year-old male with Noonan phenotype, moderate mental retardation and 46,XY, der(8), t(Y;8)(q12;q24) karyotype. Further examination of the family revealed that the boy inherited the Noonan features from his mother and the Y/8 translocation from his moderately mentally handicapped father.
Subject(s)
Chromosomes, Human, Pair 8 , Intellectual Disability/genetics , Noonan Syndrome/genetics , Y Chromosome , Child , Genetic Carrier Screening , Humans , Karyotyping , Male , Phenotype , Translocation, GeneticABSTRACT
In this report we describe two siblings, a 17-year-old male and his deceased sister, born to consanguineous parents, and presenting an oculocerebral syndrome with hypopigmentation as first delineated by Cross in 1967. In addition to the cutaneous hypopigmentation, both presented deep mental retardation and spastic tetraplegia with athetoid movements. A remarkable finding in this family is that a third sibling, an otherwise normal 23-year-old male, presents the same hypopigmentation with white-grey hair colour as his two severely affected siblings.
Subject(s)
Albinism/genetics , Consanguinity , Eye Diseases/genetics , Adolescent , Adult , Blindness/genetics , Female , Humans , Intellectual Disability/genetics , Male , Nystagmus, Pathologic/genetics , Quadriplegia/genetics , Strabismus/genetics , SyndromeABSTRACT
In this report we describe a true macrocephaly-mental retardation syndrome in three sisters. In addition, they present a distinct craniofacial dysmorphism with coarse facial features. Further family investigation revealed a similar macrocephaly in the mother and her father, suggesting autosomal dominant transmission of this familial macrocephaly. Present knowledge of the nosology of the mental retardation-macrocephaly association is reviewed and discussed.
Subject(s)
Facial Bones/abnormalities , Intellectual Disability/genetics , Skull/abnormalities , Adult , Body Height , Female , Genes, Dominant , Humans , Male , Pedigree , SyndromeABSTRACT
In this report we describe two fra(X) adults and two prepubertal fra(X) brothers with a combination of distinct phenotypic findings: extreme obesity, short stature, stubby hands and feet and diffuse hyper-pigmentation. These clinical abnormalities may be an additional indication of a specific hypothalamic disturbance in the fra(X) syndrome.
Subject(s)
Fragile X Syndrome/genetics , Hypothalamic Diseases/genetics , Sex Chromosome Aberrations/genetics , Adult , Child , Hand Deformities, Congenital/diagnostic imaging , Humans , Intellectual Disability/genetics , Male , Phenotype , RadiographyABSTRACT
In this paper we report three male patients with the Opitz hypertelorism-hypospadias syndrome. In addition to the typical morphological findings, signs of cerebral palsy related to dysmaturity and perinatal adaptation problems were present in two of them. This illustrates that this syndrome is a true multiple congenital anomaly/mental retardation MCA/MR syndrome with great variability in expression of clinical symptoms.
Subject(s)
Bone Diseases, Developmental/complications , Cerebral Palsy/complications , Hypertelorism/complications , Hypospadias/complications , Adolescent , Child , Child, Preschool , Humans , MaleABSTRACT
In this report we describe two male siblings with typical Brachmann-de Lange syndrome. Both presented a severe form of this MCA syndrome, and died at the age of 3 months and 3 weeks, respectively. Family history was completely negative, parents were normal, and prometaphase chromosome studies failed to reveal a chromosomal basis for this unique malformation syndrome.
Subject(s)
Abnormalities, Multiple/genetics , Genes, Dominant , Humans , Male , Pedigree , SyndromeABSTRACT
In this report three female patients with Melnick-Needles syndrome are described. This skeletal dysplasia is characterized by a peculiar craniofacial dysmorphism and hoarseness of the voice, which allow early clinical suspicion. The variability in clinical and radiological findings and the differences in prognosis indicate that this syndrome probably covers at the present time a heterogeneous group of different conditions.
Subject(s)
Bone Diseases, Developmental , Bone Diseases, Developmental/diagnosis , Bone Diseases, Developmental/diagnostic imaging , Bone and Bones/diagnostic imaging , Child , Child, Preschool , Female , Humans , Infant, Newborn , Radiography , Skull/diagnostic imaging , SyndromeABSTRACT
The propositus of this report presents a peculiar dysmorphic syndrome associated with severe mental retardation and epileptic attacks. Morphological stigmata include a round, fatty face with large, somewhat protruding tongue, large normally formed ears, relative microcephaly, abundant abdominal fat, dwarfism with hyperkyphosis and short neck. Analogous phenotypic abnormalities were present in the mother and a maternal cousin. The clinical and familial findings in this apparently rare mental retardation syndrome with apparently X-linked dominant or autosomal dominant inheritance with variable expression and penetrance are discussed.
