ABSTRACT
We report on 2 sibs with a previously unreported type of mesomelia of the upper limbs due to ulnar hypoplasia. Prenatal diagnosis was made by ultrasound during one pregnancy and an affected fetus was confirmed. This family documents a previously unreported autosomal recessive syndrome.
Subject(s)
Abnormalities, Multiple/genetics , Clubfoot/genetics , Intellectual Disability/genetics , Ulna/abnormalities , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/diagnostic imaging , Abortion, Induced , Bone Diseases, Developmental/genetics , Clubfoot/diagnostic imaging , Fatal Outcome , Female , Femur/abnormalities , Fetus/abnormalities , Genes, Recessive , Humans , Infant , Infant, Newborn , Male , Nails, Malformed , Pedigree , Pregnancy , Radiography , Syndrome , Ulna/diagnostic imaging , Ultrasonography, PrenatalABSTRACT
A 1-year prospective study in Gaza of diarrhoeal disease in children aged < 5 years demonstrated that Salmonella spp. (18.5% of cases), Cryptosporidium (14.6%), Campylobacter spp. (8.3%) and rotavirus (6.8%) were the major pathogens. However, when compared with non-diarrhoeic controls, only Cryptosporidium and rotavirus were significantly associated with diarrhoea. Cryptosporidiosis was found only in children aged < 2 years and significantly more children with cryptosporidiosis were malnourished. This malnutrition may have been due to the infection, since children with cryptosporidiosis tended to have had diarrhoea for relatively long periods prior to admission. It was not possible to distinguish between the different enteropathogens on clinical grounds. However, more children with rotavirus infection vomited and cryptosporidial diarrhoea lasted significantly longer (14.9 days) than rotavirus diarrhoea (5.9 days). Overcrowding was linked with an increased risk of cryptosporidiosis and breast feeding was associated with some protection. Twenty-one of the 29 children who died during the study died with diarrhoea and Cryptosporidium was detected in eight (38%) of these 21 children.
Subject(s)
Cryptosporidiosis/complications , Diarrhea/parasitology , Age Factors , Breast Feeding , Child, Preschool , Diarrhea/microbiology , Diarrhea, Infantile/parasitology , Humans , Infant , Infant, Newborn , Nutrition Disorders/complications , Prospective Studies , Rotavirus Infections/complications , Time FactorsABSTRACT
Short-limb dwarfism is of heterogeneous origin and has various clinical manifestations. This communication describes a previously apparently unreported type of short-limb dwarfism in 3 affected sibs. Characteristics of this syndrome are bilateral absence of fibulae and severe abnormalities of all digits.
Subject(s)
Dwarfism/genetics , Fibula/abnormalities , Fingers/abnormalities , Genes, Recessive , Toes/abnormalities , Child , Child, Preschool , Dwarfism/pathology , Female , Humans , Intelligence , Male , Pedigree , PhenotypeABSTRACT
Two unrelated families are presented, each with 2 affected offspring with bifid femur, absent tibia, and ectrodactyly. The healthy parents are consanguineous. It is postulated that this combination of malformations is causally heterogenous with both autosomal dominant and autosomal recessive modes of inheritance; hence, it is established as a developmental field defect.
Subject(s)
Abnormalities, Multiple/genetics , Femur/abnormalities , Fingers/abnormalities , Genes, Recessive , Tibia/abnormalities , Abnormalities, Multiple/pathology , Child , Child, Preschool , Consanguinity , Female , Femur/diagnostic imaging , Fingers/diagnostic imaging , Humans , Infant, Newborn , Pedigree , Radiography , Tibia/diagnostic imagingABSTRACT
A highly inbred kinship is described, in which 19 individuals were afflicted with bilateral profound microphthalmia without associated anomalies and with normal intelligence. Autosomal recessive inheritance is demonstrated. This kindred is instructive for genetic counseling since the affected individuals always have bilateral microphthalmia in the absence of other affected organ systems.
Subject(s)
Microphthalmos/genetics , Consanguinity , Female , Genes, Recessive , Humans , Infant , Male , Microphthalmos/pathologyABSTRACT
Male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase (17 beta-HSD) deficiency has a high prevalence within the Arab population of the Gaza strip and is characterised by marked virilization at puberty, leading in many cases to the spontaneous adoption of a male gender role. As a result of this, parents of 7 affected male infants (aged 1-10 months) born with female phenotype requested early gender reassignment. Diagnosis was suspected in 5 on the basis of a positive family history, but confirmed in all cases by the finding of low to normal testosterone levels (30-184 ng/dl) with high delta 4-androstenedione levels (188-808 ng/dl), after hCG. Treatment with im testosterone oenanthate (25-50 mg/dose) was given in one to three 3-months courses and penile size was increased into the normal range without evoking a significant increase in height velocity or skeletal maturation. Five patients underwent the first stage of male genitoplasty between 2 and 3 years of age. This consisted of bilateral orchidopexy, chordee release and penile lengthening - yielding finally an anatomically normal-sized and shaped penis. Androgen responsive male pseudohermaphroditism due to 17 beta-HSD deficiency or a similar defect and diagnosed in infancy should be treated as soon as possible with systemic testosterone before considering any sex change, and in preparation for male genitoplasty. Early gender reassignment according to genetic and gonadal sex is probably the management of choice for these cases since this may result in a normal adjustment to the male gender role, particularly after puberty.
