ABSTRACT
Gingival fibromatosis can be present as an isolated form or be part of a genetic disease. The Zimmermann-Laband syndrome (ZLS) is a rare disorder inherited as an autosomal dominant fashion, clinically characterized by gingival fibromatosis, bulbous soft nose, thick floppy ears, nail dysplasia, joint hyperextensibility, hepatosplenomegaly, skeletal anomalies and occasional mental retardation. We studied a girl aged five years with clinical and radiological features of the ZLS, additionally she presented deafness not previously described in the ZLS, as only partial hearing loss was reported in some patients. The father presented some facial features suggestive of ZLS, nevertheless he did not have gingival fibromatosis or hypertrichosis. We suggest that this case supports that ZLS can be part a contiguous genes syndrome or be consequence ofa gene mutation with wide variable expression. The present report supports that ZLS has a wide clinical spectrum.
Subject(s)
Abnormalities, Multiple , Chromosome Aberrations , Craniofacial Abnormalities , Fibromatosis, Gingival , Hand Deformities, Congenital , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/genetics , Child , Craniofacial Abnormalities/diagnosis , Craniofacial Abnormalities/genetics , Deafness/diagnosis , Deafness/genetics , Diagnosis, Differential , Female , Fibromatosis, Gingival/diagnosis , Fibromatosis, Gingival/genetics , Gene Expression/genetics , Genes, Dominant/genetics , Hand Deformities, Congenital/diagnosis , Hand Deformities, Congenital/genetics , Humans , PhenotypeABSTRACT
Zimmermann-Laband syndrome (ZLS) is an autosomal dominant disorder characterized by gingival fibromatosis, absent or dysplastic distal phalanges, vertebral defects, hepatosplenomegaly, hypertrichosis and sometimes mental retardation. We describe two unrelated patients, a girl aged 9 years and a boy 11 months whose clinical and radiological findings permit us to diagnose the ZLS. Body overgrowth, present in both patients, was identified as a main clinical feature not previously reported as well as the presence in neuroimaging studies of a cavernous hemangioma on the frontal and the left cerebellar regions in the boy. The girl also presented important radiological characteristics such as broad medulary canals and metaphyses of long bones, thin cortices, broad ribs, accelerated skeletal maturation as well as high intelligence level. A wide clinical spectrum in ZLS is also considered.
Subject(s)
Chromosome Disorders/genetics , Fibromatosis, Gingival/complications , Fibromatosis, Gingival/genetics , Hypertrichosis/complications , Hypertrichosis/genetics , Intellectual Disability/complications , Intellectual Disability/genetics , Seizures/complications , Seizures/genetics , Child , Female , Humans , SyndromeABSTRACT
Myhre syndrome is a rare disorder characterized by low birthweight, short stature, mental retardation, facial dysmorphism (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased joint mobility and deafness. To date 11 male cases and only one female case have been reported. This paper describes the second female case and compares the clinical and radiological findings between female and male patients.
Subject(s)
Abnormalities, Multiple/pathology , Bone and Bones/abnormalities , Face/abnormalities , Heart Defects, Congenital/pathology , Muscular Diseases/pathology , Abnormalities, Multiple/genetics , Body Height , Bone and Bones/diagnostic imaging , Child, Preschool , Female , Genetic Diseases, X-Linked , Humans , RadiographyABSTRACT
Complete achromatopsia associated with skeletal anomalies: a new autosomal recessive syndrome: Achromatopsia or rod monochromatism is the complete absence of color discrimination, with an estimated frequency of 1 in 100,000. To date the McKusick Catalogue includes more than 10 entities related to Achromatopsia. This paper describes four Mexican sibs with a stationary rod monochromatism, associated with long fingers and toes, hypothenar and thenar hypoplasia and pes planus, suggesting a new genetic entity probably inherited in an autosomal recessive mode.
Subject(s)
Bone and Bones/abnormalities , Chromosome Aberrations , Color Vision Defects/genetics , Genes, Recessive/genetics , Adolescent , Child , Color Vision Defects/physiopathology , Female , Humans , Male , Retinal Rod Photoreceptor Cells/physiopathology , SyndromeABSTRACT
The Floating-Harbor syndrome (FHS) is clinically characterized by short stature, retarded speech development, delayed bone age, typical facies, bulbous nose, wide columella, thin lips. Four cases with celiac disease have been described previously. In two other cases, autosomal dominant inheritance has been suggested. We describe a boy aged 2 years 11 months with clinical features of FHS and celiac disease. His mother also presents minor phenotypical characteristics, suggesting that the present observation corresponds to a variant example of familial FHS.
Subject(s)
Bone Diseases, Developmental/genetics , Celiac Disease/genetics , Craniofacial Abnormalities/genetics , Dwarfism/genetics , Genetic Variation , Language Development Disorders/genetics , Age Determination by Skeleton , Bone Diseases, Developmental/diagnosis , Celiac Disease/diagnosis , Child, Preschool , Chromosome Deletion , Chromosomes, Human, Pair 22 , Craniofacial Abnormalities/diagnosis , Dwarfism/diagnosis , Facies , Genetic Carrier Screening , Humans , Language Development Disorders/diagnosis , Male , SyndromeABSTRACT
The hypertrichosis and osteochondrodysplasia syndrome is a rare entity with clinical findings including macrosomia at birth cardiomegaly. Autosomal recessive inheritance is presumed based on the report of two affected sibs born to healthy parents. Here we report on four new patients with their follow-up data, as well as on one of the four cases from the original report. Comparison of all eight cases indicates that they share 50% of clinical and radiological changes. This report contributes to the further delineation of this newly recognized syndrome.
Subject(s)
Abnormalities, Multiple/genetics , Cardiomegaly/congenital , Hypertrichosis/congenital , Osteochondrodysplasias/congenital , Adolescent , Cardiomegaly/diagnosis , Cardiomegaly/genetics , Child , Child, Preschool , Female , Humans , Hypertrichosis/diagnosis , Hypertrichosis/genetics , Male , Osteochondrodysplasias/diagnosis , Osteochondrodysplasias/diagnostic imaging , Osteochondrodysplasias/genetics , Phenotype , Radiography , Syndrome , X-RaysABSTRACT
We studied a mother and daughter with skeletal dysplasia which was characterized clinically by proximal and distal flexion contractures in the phalanges, and by brachydactyly, clinodactyly and ulnar and radial subdislocations of the fingers. Radiologically, the 2nd metacarpal in the daughter was seen to be longer than the other metacarpals, with bone carpal fusion, and flexion contractures of the fingers in both hands. Thoraco-lumbar xyphorotoscoliosis and malformed vertebrae with dyssegmentation of L2-L3, T12 and L1 with cuneiform shape, asymmetry of the pelvic bones and exostotic lesions in the proximal third of the tibia and the distal third of the femur were also noted. The clinical and radiological characteristics were compatible with the syndrome described by Christian et al. in 1975 and called the second metatarsal syndrome. The purpose of this paper was to present a second corroborative familial case and to propose another name: Christian's spondylo-digital syndrome.
Subject(s)
Fingers/abnormalities , Osteochondrodysplasias/pathology , Toes/abnormalities , Adolescent , Female , Humans , Middle AgedABSTRACT
Two unrelated patients, aged 19 and 6 years, were studied and diagnosed as having Myhre syndrome (MS). This review, together with three previous cases, permits further delineation of MS. The main features are: short stature, mental retardation, blepharophimosis, muscular hypertrophy, decreased joint mobility, thick calvarium, broad ribs, hypoplastic iliac wings and short tubular bones. Advanced paternal age at the propositi's birth suggests an autosomal dominant mutation as the cause of MS.
Subject(s)
Bone and Bones/abnormalities , Deafness/genetics , Intellectual Disability/genetics , Muscular Dystrophies/genetics , Adult , Body Height , Bone and Bones/diagnostic imaging , Child , Diagnosis, Differential , Family , Humans , Male , Muscular Dystrophies/diagnostic imaging , Mutation , Radiography , SyndromeABSTRACT
The Schwartz-Jampel syndrome (SJS) is an autosomal recessive disorder of myotonia, short stature, "mask-like" face, blepharophimosis, stiff joints, spinal malalignment, and pectus carinatum. The authors report on a 10-year-old girl with expressionless face, blepharophimosis, mild thoracic asymmetry, and myotonic electromyographic pattern, but without osteoarticular, spinal, and statural involvement. This appears to be one of the mildest form of SJS described so far. Contiguous genes could be an explanation for this and other atypical cases of SJS.
Subject(s)
Osteochondrodysplasias/genetics , Body Height , Bone and Bones/abnormalities , Child, Preschool , Female , Humans , Joints/abnormalities , Osteochondrodysplasias/pathology , Spine/abnormalitiesABSTRACT
Three sisters with congenital glaucoma, peculiar facies and mild skeletal anomalies are described. It is concluded that such an aggregate of anomalies probably corresponds to a 'new' autosomal recessive syndrome.
Subject(s)
Abnormalities, Multiple/genetics , Bone and Bones/abnormalities , Glaucoma/congenital , Adolescent , Bone and Bones/diagnostic imaging , Child , Facial Bones/abnormalities , Female , Fundus Oculi , Glaucoma/genetics , Humans , Iris/abnormalities , Radiography , SyndromeABSTRACT
An adult male patient with a "de novo" pure trisomy 1q32---q42 was studied. Literature review of 33 cases with 1q trisomy allowed singling out a distinctive phenotype by eliminating clinical features of concomitant aneusomies. It is concluded, however, that the clinical pictures of the "pure" and "impure" 1q trisomies are similar and that the critical segment includes bands q32 and q41.