ABSTRACT
We attempted here the delineation of the natural history of the disease and corresponding prevention levels (NHD and PL) of the Wiedemann-Beckwith syndrome according to the classical model of Leavell and Clark for infectious-contagious diseases. This proposal was based on our own series of 39 patients and our previous reports on the didactics of the NHD and PL model, as well as on the relevant literature; with this approach we obtained an useful model which includes the health-disease status, the analysis of risk factors and the integration of the clinical practice with socio-epidemiological medicine. Furthermore, the NHD and PL model allow the selection of the preventive management depending on the clinical stage, namely health or disease. This approach to a Mendelian condition emphasizes that the Leavell and Clark concepts can be advantageously applied to any genetic disease.
Subject(s)
Beckwith-Wiedemann Syndrome/diagnosis , Beckwith-Wiedemann Syndrome/prevention & control , Beckwith-Wiedemann Syndrome/etiology , Beckwith-Wiedemann Syndrome/genetics , Female , Humans , Infant, Newborn , Male , Risk FactorsSubject(s)
Beckwith-Wiedemann Syndrome , Beckwith-Wiedemann Syndrome/ethnology , Child , Female , Humans , MaleABSTRACT
There are multiple causes and classifications of macroglossia. We report a new observation of this entity in a mother and her daughter. Together with our previous report in two Mexican families with autosomal dominant transmission, we now expand the current classification with a new category: autosomal dominant macroglossia.
Subject(s)
Chromosome Aberrations , Chromosome Disorders , Macroglossia/genetics , Adult , Female , Humans , Infant , Macroglossia/classificationABSTRACT
Thirty-nine patients (82% under 1 year of age) with Wiedemann-Beckwith syndrome (WBS) were prospectively studied. To evaluate the somatometric data the normal range was set out at mean +/- 2 SD. The relevant physical findings were a characteristic face, non increased mean height and weight, normal head circumference, defective abdominal wall, a predominance of the upper segment, and tibial bowing. Mental retardation was documented in 5 cases but in only 1 it was related to hypoglycemia. The 32 cases karyotyped were normal. Since neonatal hypoglycemia is frequent (34.3% in our series) and potentially deleterious for the CNS we propose to monitor the glycemia every 6 h during the first 3 days in WBS newborns in order to correct glycemia below of 2.6 mmol/l (46.8 mg/dl) according to recent studies. The comparison with previous large series enabled us to precise the frequency, onset and evolution of the main stigmata.
Subject(s)
Beckwith-Wiedemann Syndrome/genetics , Adolescent , Anthropometry , Beckwith-Wiedemann Syndrome/diagnostic imaging , Bone and Bones/diagnostic imaging , Child , Child, Preschool , Female , Gene Frequency/genetics , Humans , Infant , Infant, Newborn , Karyotyping , Male , Mexico , Phenotype , Risk Factors , Tomography, X-Ray ComputedABSTRACT
An 8-year-old boy with hypospadias and a 45,X/46,X,idic(Yp) karyotype is described. This chromosome abnormality possibly originated in an early zygote. It is concluded that: a) phenotypic variability in patients with an idic(Yp) probably results from an unequal tissular distribution of the different clones, and (b) deletion of Yq in the present case was distal to the stature determinants.
Subject(s)
Hypospadias/genetics , Y Chromosome , Child , Humans , Karyotyping , Male , Phenotype , Sex Chromosome Aberrations/geneticsABSTRACT
A 12 month-old female is described, with clinical features of AEC syndrome. This case is a novo mutation. Clinical diagnosis at an early age is emphasised to get a better management and genetic counseling. Also we review the literature.
Subject(s)
Cleft Lip/genetics , Cleft Palate/genetics , Ectodermal Dysplasia/genetics , Eyelids/abnormalities , Female , Humans , Infant, Newborn , Phenotype , SyndromeABSTRACT
Two unrelated male children, aged 15 and 2 months, with congenital contractural arachnodactyly (CCA) are described. CCA is an autosomal dominant disorder of benign evolution, affects the connective tissue and its morphologic phenotype is similar to Marfan syndrome. Differential diagnosis and management are discussed.
Subject(s)
Bone Diseases, Developmental/congenital , Bone Diseases, Developmental/pathology , Humans , Infant , Male , Marfan Syndrome/pathologyABSTRACT
A 4-month-old male infant with 22q distal trisomy and karyotype 46,XY,rec(22), dup q,inv(22)(q13q12)mat is reported. This and six previous similar instances are compared, and a distinct syndrome is delineated as follows: growth and psychomotor retardation, microcephaly or hydrocephaly, brain malformation, defective skull ossification, hypertelorism, narrow palpebral fissures, short broad nose, cleft palate with or without lip involvement, short neck, cardiac defect, renal and genital hypoplasia, osteoarticular abnormalities (mostly clubfoot), and poor survival. In addition, this syndrome is distinct from other duplications of chromosome 22, namely the complete trisomy, the proximal trisomy, and the cat-eye phenotype.
Subject(s)
Abnormalities, Multiple/genetics , Chromosomes, Human, Pair 22 , Recombination, Genetic , Trisomy , Humans , Infant , Male , SyndromeABSTRACT
Two unrelated families, one with 15 and the other with 3 members affected with macroglossia as a sole trait, are described. It is concluded that this entity differs from previously reported syndromes presenting macroglossia and is inherited in an autosomal dominant fashion.
Subject(s)
Genes, Dominant , Macroglossia/genetics , Female , Humans , Male , PedigreeSubject(s)
Turner Syndrome/diagnosis , Female , Humans , Infant, Newborn , Infant, Premature , Phenotype , Turner Syndrome/geneticsABSTRACT
Two boys and two girls from a sibship of six, affected with the Wiedemann-Beckwith syndrome (WBS), are reported. One of the patients also had congenital hypothyroidism, an association hitherto undescribed and possibly fortuitous. Neither stigmata of WBS in other family members nor parental consanguinity were found, indicating a possible autosomal dominant inheritance comprising either a delayed mutation of an unstable premutated gene or non-penetrance.
Subject(s)
Beckwith-Wiedemann Syndrome/genetics , Congenital Hypothyroidism , Child, Preschool , Female , Hernia, Umbilical/genetics , Humans , Hypothyroidism/complications , Infant , Macroglossia/genetics , Male , PedigreeABSTRACT
A two year-old boy with congenital malformations, psychomotor retardation and absence of phenotypical features of the Langer-Giedion syndrome (LGS) was found to have a de novo del (8) (q212q2200). The comparative analysis with other 8q monosomic cases suggests the existence of at least two distinct syndromes: one due to the monosomy of a part of the segment 8q22----q24, clinically manifested as the LGS, and the other to the deletion of the band 8q21.
Subject(s)
Abnormalities, Multiple/genetics , Chromosome Deletion , Chromosomes, Human, 6-12 and X , Chromosome Banding , Humans , Infant, Newborn , Male , Psychomotor Disorders/genetics , SyndromeABSTRACT
La alteracion ocular en el sindrome de Marfan es importante, y la manifestacion mas frecuente es la ectopia del cristalino que se encontro en 52.9 por ciento de nuestros pacientes. Este hallazgo nunca aparece solo, siempre forma parte del complejo dismorfico. Se confirmo la accion pleiotropica del gene de Marfan en todos los pacientes. La asistencia debe incluir evaluacion periodica por lo menos cada ano con insistencia en correccion optica temprana, especialmente en pacientes anisometropes, porque estos desarrollan facilmente ambliopia, e identificacion de grado de luxacion del cristalino, presencia de opacidades y anomalias de la camara anterior, asi como de lesiones incipientes de la retina, con la finalidad de aplicar una terapeutica medica o quirurgica pronta y eficaz
Subject(s)
Child, Preschool , Child , Adolescent , Humans , Male , Female , Visual Acuity , Eye/surgery , Eye Manifestations , Marfan SyndromeABSTRACT
A 3-year-old 49,XXXXX girl, the seventeenth case in medical literature, is described. A typical characteristic of the syndrome is the round face with epicanthal folds, hypertelorism, broad flat nasal bridge, upward slant of the palpebral fissures, enlarged round mandible and pointed chin, somewhat resembling trisomy 21. The apparent stronger selection against 49,XXXXX aneuploidy versus the 49,XXXXY suggested by the much higher frequency of the latter is probably due to the more severe congenital cardiopathy which may be related to the number of inactivated X chromosomes.
Subject(s)
Abnormalities, Multiple/genetics , Sex Chromosome Aberrations/genetics , Sex Chromosomes , X Chromosome , Adult , Child, Preschool , Chromosome Banding , Female , Humans , Karyotyping , MaleABSTRACT
Se hizo un estudio a una familia en la que tres hermanos, dos mujeres y un varon, de 16, 12 y 14 anos de edad respectivamente, presentaban retardo mental profundo.De las pruebas cualitativas para la investigacion de los errores metabolicos congenitos las de clorudo ferrico, tira reactiva para determinar fenilalanina y 2,4-dinitrofenilhidrazina fueron positivas en las muestras de orina de los tres pacientes, sugiriendo la excrecion de acido fenilpiruvico, catabolito de la fenilalanina. La cromatografia en papel y en capa fina de muestras de orina, mostro grandes cantidades de fenalalanina. Los resultados de la cuantificacion de los niveles plasmaticos de fenilalanina y tirosina por cromatografia en columna, fueron de 43.6, 34.7 y41.8 y de 1.2, 0.6 y 10 mg/100 ml, respectivamente. El analisis de los datos clinicos y bioquimicos encontrados en estos pacientes y su comparacion con los informados en la literatura para los nueve diferentes tipos de hiperfenilalaninemia, es compatible con um diagnostico de hiperfenilalaninemia tipo I
Subject(s)
Child , Adolescent , Humans , Male , Female , Phenylalanine , Metabolism, Inborn Errors , ChromatographyABSTRACT
Five sporadic cases of cleidocranial dysostosis are described. Besides the classical findings, the clinical and roentgenological evaluation showed bilateral macrodactily of the second toe, aplasia of the 12th rib and severe acetabular dysplasia. This features had not been previously reported in medical literature. The importance of an early diagnosis is stressed for adequate orthopedic and odontologic management, as well as for opportune genetic counseling.
Subject(s)
Cleidocranial Dysplasia/diagnostic imaging , Skeleton/diagnostic imaging , Adolescent , Child , Cleidocranial Dysplasia/diagnosis , Female , Genetic Counseling , Humans , Male , RadiographyABSTRACT
Two families, each with two sibs presenting atrichia congenita, were studied. Histopathological studies of scalp biopsies from affected revealed absence of hair follicles. The pedigree data were interpreted as corroborative of a previously postulated autosomal recessive pattern of inheritance.
Subject(s)
Alopecia/congenital , Genes, Recessive , Alopecia/genetics , Alopecia/pathology , Child , Child, Preschool , Chromosome Aberrations , Chromosome Disorders , Female , Humans , Male , Pedigree , Scalp/pathologyABSTRACT
Two unrelated males presented a distinct syndrome, consisting mainly of mental retardation, short stature, wrinkled facies, curly and fine hair, scanty eyebrows and eyelashes, telecanthus, periodontitis, hypermobility of the joints, hyperextensibility and fragility of the skin, multiple nevi, papiraceous scars, bruisability, varicose veins, pectus excavatum, winged scapulae, pes planus and bilateral cryptorchidism. Since some features were typical of Ehlers-Danlos Syndrome (EDS), the clinical data were analyzed comparatively with the different types of EDS. The individualization of a distinct variant is concluded. Increased paternal age at the birth of both cases suggests a de novo dominant mutation.
