Subject(s)
Dermatitis, Contact/etiology , Liliaceae/adverse effects , Urticaria/etiology , Adult , Female , HumansABSTRACT
We present a child with an MCA pattern of sclerocornea, hypertelorism, pterygium colli, upper limb syndactyly, ambiguous genitalia, abnormal ears and nose, umbilical hernia, congenital heart disease, and normal chromosomes (46,XX). Although the defects observed in this case follow the diagnostic criteria for Fraser syndrome proposed by Thomas et al. [1986: Am J Med Genet 25:85-98], we think that this is a different entity.
Subject(s)
Abnormalities, Multiple/pathology , Eye Abnormalities , Genitalia, Female/abnormalities , Hypertelorism , Syndactyly , Abnormalities, Multiple/ethnology , Female , Genes, Recessive , Humans , Infant, Newborn , Male , Roma , Spain , SyndromeABSTRACT
Authors have studied 45 babies born during past five years to drug-addicted mothers. Increase in number han been remarkable: from 0.095 per thousand live births in 1980 to 1.57 in 1984. There was and 16.3% incidence for preterm infants, 34.8% for low birth weight and 18.6% were small for gestational age. One third (30.2%) suffered infections, mostly sepsis. Morbidity was high in these babies, caused mainly by prematurity. Drug withdrawal syndrome appeared in 26 babies (60.4%) at an age of 13 +/- 10 hours. Fifteen of these babies (57.6%) required pharmacological treatment during 10 +/- 7.3 days, with a good response, and only two cases needed treatment for more than a month. There were no deaths in the neonatal period. In our experience children of heroin addicted mothers form a group difficult to study because their parents give not reliable data, they have high morbidity and true problems begin when they leave hospital.
Subject(s)
Heroin Dependence , Infant, Newborn , Adolescent , Adult , Birth Weight , Embryonic and Fetal Development , Female , Gestational Age , Humans , Neonatal Abstinence Syndrome , SpainABSTRACT
Se describe el caso de un lactante galactosémico, que manifiesta su enfermedad en el primer mes de vida, caracterizándose por mal progreso ponderal, acidosis, ictericia, hepatoesplenomegalia, daño neurológico y ausencia de cataratas. El diagnóstico se confirmó mediante cromatografía de azúcares en orina, la que demostró galactosuria previa administración de galactosa en la dieta. Su tratamiento consistió en supresión de la ingesta de galactosa; con él se consiguió mejoría parcial de la función hepática, pero no del daño neurológico
Subject(s)
Infant , Humans , Male , Galactosemias/diagnosis , Galactose/urine , Chromatography , Neurologic Manifestations/etiologyABSTRACT
Authors report two patients from different families who present similar abnormalities caused by an "almost complete" trisomy of the short arm of chromosome 5 [case No. 1: 46, XY, der (20), t (5; 20) (p11;p13), mat; case No.2: 46, XY, dup (5p)]. Several family members of case No. 1 were balanced translocation carriers. Case No. 2 is probably due to de novo duplication. Clinical findings in our cases and those cited in the literature allow identification of certain main features characteristic of "almost complete" trisomy 5p: hypotonia, weak cry, mongoloid slant of eyes, epicanthus, depressed nasal bridge, auricular anomalies, bilateral cryptorchidism and, less frequently, macrocephaly, micrognathia and club feet.