RESUMEN
AIM: The objective of this research was to determine the incidence and severity of HSPM and its association with caries in 4-5 year-old children in Latakia, Syria. METHODS: A cross-sectional study was carried out with 600 preschool children. The European Academy of Pediatric Dentistry (EAPD) criteria were used for scoring HSPM. The decayed, missing and filled teeth (dmft) index was used to evaluate caries status. RESULTS: The prevalence of HSPM was 41%. The difference in HSPM prevalence between males and females was not statistically significant (p > 0.05). Children with HSPM are more likely to have dental caries (OR 6.69; CI 4.5_10; p < 0.001). CONCLUSIONS: The prevalence of HSPM was relatively high in Syrian children. HSPM increases the incidence of caries.
Asunto(s)
Caries Dental , Hipoplasia del Esmalte Dental , Preescolar , Estudios Transversales , Índice CPO , Caries Dental/epidemiología , Femenino , Humanos , Masculino , Diente Molar , Prevalencia , Siria/epidemiologíaRESUMEN
ACTB and ACTG1 mutations have recently been reported to cause Baraitser-Winter syndrome (BRWS) - a rare condition characterized by ptosis, colobomata, neuronal migration disorder, distinct facial anomalies and intellectual disability. One of the patients carrying an ACTB mutation was previously diagnosed with Fryns-Aftimos syndrome (FAS), which is a rare and severe, multiple congenital anomaly (MCA) syndrome whose symptoms partially overlap with that of BRWS. However, several patients with Fryns-Aftimos were considered not to fit into the ACTB and ACTG1 spectrum because of their severe impairment and additional malformations. We report on three patients who had been diagnosed with FAS. All three patients carry a mutation in the ACTB gene. On the basis of the ACTB mutations and analysis of the clinical findings, we reclassify the diagnosis of these patients as severe BRWS. We suggest that mutations in ACTB cause a distinctly more severe phenotype than ACTG1 mutations, despite the structural similarity of beta- and gamma-actins and their overlapping expression pattern. We expand the spectrum of BRWS and confirm that FAS is not a separate entity but an early and severe manifestation of BRWS.
Asunto(s)
Anomalías Múltiples/genética , Actinas/genética , Anomalías Múltiples/clasificación , Anomalías Múltiples/patología , Adolescente , Niño , Análisis Mutacional de ADN , Femenino , Estudios de Asociación Genética , Humanos , Masculino , Mutación Missense , Fenotipo , Índice de Severidad de la Enfermedad , Síndrome , Adulto JovenAsunto(s)
Anomalías Múltiples/diagnóstico , Deleción Cromosómica , Cromosomas Humanos Y , Diagnóstico Prenatal , Aberraciones Cromosómicas Sexuales , Anomalías Múltiples/diagnóstico por imagen , Anomalías Múltiples/embriología , Adulto , Diagnóstico Diferencial , Femenino , Humanos , Recién Nacido , Masculino , Edad Materna , Embarazo , UltrasonografíaRESUMEN
We report on a boy with hyperphalangism, partial syndactyly, facial anomalies, and diffuse bronchomalacia, born to a nonconsanguineous French-Canadian couple. To our knowledge, this is a hitherto undescribed syndrome.
Asunto(s)
Anomalías Múltiples , Huesos/anomalías , Enfermedades Musculoesqueléticas/congénito , Bronquios/anomalías , Huesos Faciales/anomalías , Hallux Valgus , Deformidades Congénitas de la Mano , Humanos , Recién Nacido , Masculino , Cráneo/anomalías , SíndromeRESUMEN
We report on 2 sibs with generalized hypotonia, developmental retardation, unilateral radio-ulnar synostosis, and a characteristic facial appearance. We propose that they have a new autosomal recessive syndrome.
Asunto(s)
Radio (Anatomía)/anomalías , Sinostosis/genética , Cúbito/anomalías , Niño , Dermatoglifia , Discapacidades del Desarrollo/genética , Cara/anomalías , Femenino , Genes Recesivos , Humanos , Masculino , Hipotonía Muscular/genética , Fenotipo , SíndromeRESUMEN
We report on a 14-year-old boy with ring chromosome 20. Clinical manifestations included postnatal growth retardation, epilepsy, microcephaly, behaviour disorder, minor facial anomalies, small sella turcica, possible partial growth hormone deficiency, and mental retardation. A decreased activity of enzyme carboxypeptidase-L/protective protein (CP/PP) in cultured fibroblasts was demonstrated in our patient and a patient with a karyotype 46,XY,-14, + der(14)t(14;20)(14pter----14q32.3::20q13.1----20qter)m at. This suggests possible assignment of the CP/PP gene to the distal segment of 20q.
Asunto(s)
Carboxipeptidasas/genética , Cromosomas Humanos Par 20 , Trastornos del Crecimiento/genética , Cromosomas en Anillo , Adolescente , Células Cultivadas , Aberraciones Cromosómicas , Mapeo Cromosómico , Genes , Humanos , Discapacidad Intelectual/genética , MasculinoRESUMEN
We report on 4 individuals (3 sibs and their father) with a syndrome of growth retardation, microcephaly, minor facial anomalies reminiscent of a mild Brachmann-de Lange syndrome (BDLS), severe metatarsus adductus, developmental delay, and unusual dermatoglyphics. The syndrome, which seems to be inherited as an autosomal dominant trait with variable expressivity, resembles mild BDLS.
Asunto(s)
Síndrome de Cornelia de Lange/fisiopatología , Metatarso/anomalías , Microcefalia/complicaciones , Adulto , Niño , Preescolar , Aberraciones Cromosómicas/genética , Trastornos de los Cromosomas , Cromosomas Humanos Par 22/ultraestructura , Síndrome de Cornelia de Lange/genética , Femenino , Humanos , Discapacidad Intelectual/genética , Masculino , Microcefalia/genéticaRESUMEN
We report on monozygotic (MZ) twins, one with the fibular aplasia developmental field defect, and the other with ectrosyndactyly of the hand. This may represent a coincidental occurrence of two sporadic events, or syndromal fibular aplasia.
Asunto(s)
Enfermedades en Gemelos/genética , Peroné/anomalías , Deformidades Congénitas del Pie/genética , Deformidades Congénitas de la Mano/genética , Humanos , Recién Nacido , Masculino , Sindactilia/genética , Tibia/anomalías , Gemelos MonocigóticosRESUMEN
We report on a girl with a previously undescribed de novo direct tandem duplication 4q involving the segment q23----q27. Clinical manifestations included postnatal growth and psychomotor retardation, microcephaly, hirsute forehead, epicanthic folds, strabismus, depressed nasal bridge, long philtrum, small mouth, tetralogy of Fallot, and sacral dimple. Her phenotype is compared with that of previously reported cases of duplication 4q. An increased activity of the enzyme aspartylglucosaminidase (AGA) in cultured fibroblasts was demonstrated. This suggests possible assignment of the AGA gene to the chromosomal segment 4q23----4q27.
Asunto(s)
Aspartilglucosilaminasa/genética , Cromosomas Humanos Par 4 , Genes/genética , Familia de Multigenes/genética , Mapeo Cromosómico , Femenino , Estudios de Seguimiento , Humanos , Recién Nacido , Linaje , FenotipoRESUMEN
Four individuals from 2 generations of a family had a hidrotic type of ectodermal dysplasia (ED). Males and females were similarly affected. They had trichodysplasia, with absent eyebrows and eyelashes; normal teeth, onychodysplasia; normal sweating; mild retrognathia; abnormal dermatoglyphics; and mental retardation. Additional variable manifestations included irregular menses, high implanted or prominent ears, café-au-lait spot, keratosis pilaris, supernumerary nipple, and mild hearing loss. Their previously undescribed condition could be classified as an ED of 1-3 (trichoonychial) subgroup of group A according to Freire-Maia's classification and is inherited as an autosomal recessive trait.
Asunto(s)
Displasia Ectodérmica/genética , Aberraciones Cromosómicas , Dermatoglifia , Femenino , Genes Recesivos , Cabello/anomalías , Humanos , Recién Nacido , Masculino , LinajeRESUMEN
We report on a boy with platyspondyly and metaphyseal manifestations of enchondromatosis with severe involvement of hands and feet, compatible with generalized enchondromatosis (enchondromatosis Spranger type VI). His father has only moderate platyspondyly. The latter is either coincidental or a milder, more localized expression of the disease. Father and son have consanguineous parents suggesting autosomal recessive inheritance of the trait. However, autosomal dominant inheritance with variable expressivity is also possible.
Asunto(s)
Encondromatosis/genética , Columna Vertebral/anomalías , Adulto , Aberraciones Cromosómicas , Consanguinidad , Encondromatosis/diagnóstico por imagen , Humanos , Lactante , Masculino , Radiografía , Columna Vertebral/diagnóstico por imagenRESUMEN
Here we report on a boy with Hirschsprung megacolon associated with microcephaly, narrow palpebral fissures, broad nasal bridge, congenital heart defect, cryptorchidism, wide-base gait, short stature, developmental delay and abnormal computed tomography (CT) brain scan. The findings are compared with those of previously described patients with the same syndrome.
Asunto(s)
Anomalías Múltiples/genética , Cara/anomalías , Enfermedad de Hirschsprung/complicaciones , Discapacidad Intelectual/complicaciones , Microcefalia/complicaciones , Encéfalo/anomalías , Niño , Enfermedad de Hirschsprung/genética , Humanos , Discapacidad Intelectual/genética , Masculino , Microcefalia/genética , SíndromeRESUMEN
We report on a 19-month-old girl with ring chromosome 4 and a multiple congenital anomaly syndrome. The clinical and cytogenetic findings are compared with those of previous cases in whom the breakpoints in ring chromosome 4 are known.
Asunto(s)
Cromosomas Humanos Par 4 , Obstrucción Duodenal/genética , Atresia Intestinal/genética , Cromosomas en Anillo , Anomalías Múltiples/genética , Obstrucción Duodenal/congénito , Femenino , Humanos , LactanteRESUMEN
An adult patient with mongoloid appearance, profound retardation and autistic-like behavior was found to have a deletion of the distal bands of chromosome 1q. To our knowledge, this is the oldest patient with distal deletion 1q.
Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 1 , Síndrome de Down/genética , Adulto , Femenino , Humanos , CariotipificaciónRESUMEN
We report on three individuals (two sibs and their father) with the Kabuki make-up syndrome. The two sibs had congenital dislocation of the hips and all three individuals had short stature and the facial characteristics of the syndrome. To our knowledge this is the first report of familial occurrence of the Kabuki make-up syndrome.
Asunto(s)
Expresión Facial , Trastornos del Crecimiento/genética , Luxación Congénita de la Cadera/genética , Discapacidad Intelectual/genética , Anomalías Dentarias/genética , Adolescente , Adulto , Niño , Dermatoglifia , Femenino , Genes Dominantes , Humanos , Masculino , SíndromeRESUMEN
We report on an 8 1/2-year-old boy with slowly progressive macrocephaly, psychomotor retardation, multiple subcutaneous angiolipomas, hypertelorism, exotropia, prolonged drooling, cutis marmorata, telangiectasia, congenital heart defect, broad thumbs and great toes, and muscle wasting. The syndrome is similar to the Bannayan-Zonana syndrome and seems to be inherited as an autosomal dominant trait. The father has partial manifestations of the syndrome.
Asunto(s)
Anomalías Múltiples/patología , Hamartoma/genética , Neoplasias Cutáneas/genética , Cráneo/anomalías , Anomalías Múltiples/genética , Antropometría , Niño , Consanguinidad , Genes Dominantes , Humanos , Masculino , Linaje , SíndromeRESUMEN
Here we report on a girl with a translocation between 1 and 2 and duplication 1p and deletion 2q resulting in a multiple congenital anomaly syndrome including intrauterine growth retardation, microcephaly, hypotelorism, cleft palate, subglottic stenosis, umbilical hernia, scoliosis, anal atresia, bilateral calcaneovalgus, overlapping toes, and vertebral anomalies.
Asunto(s)
Aberraciones Cromosómicas , Deleción Cromosómica , Cromosomas Humanos Par 1 , Cromosomas Humanos Par 2 , Translocación Genética , Anomalías Múltiples/diagnóstico por imagen , Anomalías Múltiples/genética , Bandeo Cromosómico , Femenino , Humanos , Recién Nacido , Familia de Multigenes , RadiografíaRESUMEN
Four individuals from three generations of a family had the Hand-Foot-Genital (Hand-Foot-Uterus) syndrome. Affected females had urologic abnormalities confirming that the latter are part of the syndrome.
Asunto(s)
Anomalías Múltiples/genética , Deformidades Congénitas del Pie , Deformidades Congénitas de la Mano , Anomalías Urogenitales , Adolescente , Adulto , Dermatoglifia , Femenino , Humanos , Persona de Mediana Edad , Linaje , SíndromeRESUMEN
In 1980 a syndrome was first described in two adult males, consisting of macrocephaly, pigmented macules on the glans and shaft of the penis, and hamartomatous intestinal polyps. Since then, 10 additional cases have been identified. Herein, we present two new cases and review the cutaneous manifestations as well as additional features in patients with the Ruvalcaba-Myhre-Smith syndrome.