ABSTRACT
Cohen syndrome is an autosomal recessive disorder characterized by hypotonia, mental retardation, microcephalia, typical craniofacial features, myopia and chorioretinal dystrophy. The responsible gene has been mapped to chromosome 8q 22 (COH 1). Since it was described more than 100 patients have been reported. However, none of them has been associated with vascular rings. Our hospital has studied eight pediatric cases and 25% of them were related with vascular rings.
Subject(s)
Abnormalities, Multiple , Blood Vessels/abnormalities , Craniofacial Dysostosis/genetics , Intellectual Disability/genetics , Microcephaly/genetics , Muscle Hypotonia/genetics , Obesity/genetics , Child , Child, Preschool , Female , Genes, Recessive , Humans , Male , SyndromeABSTRACT
El síndrome de Cohen es un trastorno autosómico recesivo que se caracteriza por la asociación de obesidad, hipotonía, retraso mental, microcefalia, dismorfia craneofacial típica, miopía y distrofia coriorretiniana. Se ha localizado el locus para el síndrome de Cohen en el cromosoma 8q 22 (COH 1). Desde su descripción más de cien pacientes han sido comunicados, no presentando ninguno de ellos asociación con anillos vasculares. Presentamos ocho casos pediátricos diagnosticados en nuestro hospital, la mayor serie publicada en España, de las cuales un 25 por ciento se asociaron con anillos vasculares (AU)
Subject(s)
Child, Preschool , Child , Male , Female , Humans , Abnormalities, Multiple , Syndrome , Acupressure , Microcephaly , Muscle Hypotonia , Intellectual Disability , Obesity , Blood Vessels , Child Abuse , Craniofacial Dysostosis , Genes, Recessive , HematomaSubject(s)
Blepharophimosis/complications , Blepharoptosis/complications , Chromosome Inversion , Eyelids/abnormalities , Hearing Loss, Sensorineural/complications , Adult , Blepharophimosis/genetics , Blepharoptosis/genetics , Child , Chromosome Aberrations/genetics , Chromosome Disorders , Chromosomes, Human, Pair 9/genetics , Hearing Loss, Sensorineural/genetics , Humans , Intellectual Disability/complications , Male , SyndromeABSTRACT
The dysmorphogenic and teratogenic effects of valproic acid, when administered to pregnant women, have been noted in several reports. We report the case of a 3-month-old infant with multiple congenital anomalies, including severe skeletal malformations, congenital heart defect and facial dysmorphism, whose mother was treated with valproic acid (1000 mg/day) throughout the pregnancy. This is the second published case reporting major skeletal malformations and supports the possible teratogenic effects of valproic acid.
Subject(s)
Abnormalities, Drug-Induced/etiology , Abnormalities, Multiple/chemically induced , Bone and Bones/abnormalities , Face/abnormalities , Heart Defects, Congenital/chemically induced , Valproic Acid/adverse effects , Humans , Infant , MaleABSTRACT
We report 2 generations with type C hereditary brachydactyly of dominant autosomal inheritance of variable expressiveness. The most characteristic data was the shortening of the middle phalanges of the second, third and fifth finger as well as the first metacarpal. Short stature was observed in three of the patients studied. The goal of this study was aimed at stimulating GH pharmacologically and determining its 24 h physiologic secretion, as well as somatomedin C levels. All the determinations were within the normal range. The deficient growth shown by these patients is a constitutional growth delay, possibly an expression of type C brachydactyly.
Subject(s)
Chromosome Aberrations , Chromosome Disorders , Fingers/abnormalities , Toes/abnormalities , Child, Preschool , Fingers/diagnostic imaging , Humans , Male , Pedigree , Radiography , Toes/diagnostic imagingABSTRACT
Digital and palmar dermatoglyphic patterns of 155 children with cryptorchidy has been studied. Results were compared to two control groups of Spanish normal population. 50 and 300 males respectively, showing the following statistically significant differences: 1. High incidence of whorls (37.4% vs. 22.2% and 29.5%) and low frequency of ulnar loops (51.5 vs. 66.4 0 and 60.8%) on fingers. 2. Frequent recurrence of some digital patterns, with a higher frequency of accumulated whorls and lower frequency of accumulated ulnar loops. 3. Increased amplitude of atd angle. 4. No differences in finger ridge count or ab ridge count.
Subject(s)
Cryptorchidism/genetics , Dermatoglyphics , Child , Humans , Male , SpainABSTRACT
Fetal mortality in 110 families of patients with cleft lip with or without cleft palate is analyzed and correlated with liability. Because there was no significant difference, authors discussed these findings with references to multifactorial two-threshold hypothesis.
