In the only ongoing population-based study of CP in the United States, there has been a modest increase in the prevalence of CP in 1-year survivors born from 1975-1991. This increase however was seen only in infant survivors of normal birth weight. No change was seen in the trends in CP prevalence in low birth weight and very low birth weight infant based on infant survivors.

SUMMARY A second family with the autosomal recessive disorder now referred to as the limb/pelvis-hypoplasia/aplasia syndrome is reported. It is speculated that the gene for this rare skeletal dysplasia may be confined to the Middle East gene pool. The disorder has been shown to be diagnosable prenatally in a pregnancy at risk by using ultrasonography.In 1985, Al-Awadi et all first briefly reported on two Arab sibs of consanguineous parents with a newly recognised skeletal dysplasia disorder, consisting of profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence.The purpose of this report is to describe and to discuss in detail a second affected consanguineous family with three affected offspring (the proband *and the two aborted fetuses) with this disorder, which we now call the limb/pelvis-hypoplasia/aplasia syndrome. Our reasons for renaming this condition will be discussed. Case reportsThe proband (fig 1) three abnormally shaped digits on each hand. The lower extremities showed severe phocomelic changes with absence of the feet. The external genitalia were displaced upwards. The penis appeared normal, but the scrotum was hypoplastic with bilateral cryptorchidism (fig 2). No other physical findings were noted. No definite diagnosis was made at that time but the parents were advised that, because of their consanguinity, they might be at risk for having similarly affected children. Furthermore, because of the severity of the malformations, it was suggested that all future pregnancies should be monitored by means of ultrasound, as there was a good chance At approximately one year of age, the proband was placed in a hospital for crippled children (Alyn Hospital, Jerusalem) and this is where he currently resides. He is at present four and a half years old, his weight is 11*5 kg (<3rd centile), and he has a head circumference of 49 cm (>2nd centile). Physical examination at this time showed a boy with normal facies except for a pointed chin and long ears. His state of alertness and intelligence appeared to be normal for his age.The upper limbs were short and symmetrically involved. Both elbow joints showed a flexion contracture deformity. His forearms were shortened and the wrist joints were very mobile. There was bilateral ectrodactyly of the hands, each having two fingers and a thumb, and all digits were malformed. The pelvis was grossly deformed. As commented upon previously, the external genitalia were displaced upwards and the scrotum appeared hypoplastic. Both testes were in the inguinal canal despite the fact that at three years of age he had had orchidopexy. Dermatoglyphic findings showed marked distortion of the digital and palmar prints, since only three digits were present on both hands. The left palm had only an axial triradius and one palmar crease was present. On the right palm there was one common triradius for digits II and III. No other triradii were present. On both palms there were many fine, small creases with no specific shape or direction. The left hand had a wh...

Salvage chemotherapy plays a central role in the management of patients with relapsed rhabdomyosarcoma. CEV/IVE and VI(T) regimens can be recommended as neoadjuvant chemotherapy before local treatment for patients with relapsed rhabdomyosarcoma.

Background: Precocious and early puberty are reported findings in children with pre-existing medical conditions including certain syndromes. Series pertaining to such situations are limited. Methods: A retrospective, single-center study was conducted on children with central precocious puberty (onset before the age of 8 years in girls and 9 years in boys) or early puberty (onset between 8 and 9 years in girls and between 9 and 10.5 years in boys) diagnosed on the background of a known pre-existing chronic significant medical condition. Patients with a CNS tumor and those exposed to cranial irradiation were excluded. Results: Precocious puberty was diagnosed in 13 patients and early puberty in 12. Mean age at onset of puberty was 6.65 ± 2.3 years in girls ( n = 15) and 9.4 ± 0.84 years in boys ( n = 10). The most common disorders were psychomotor delay ( n = 12), psychiatric disorders ( n = 7) and/or epilepsy ( n = 5). Precocious or early puberty was among the symptoms experienced by patients with a variety of syndromes including lipofuscinosis (2 siblings), Dravet syndrome and Silver-Russel syndrome. Pituitary stalk interruption with agenesis of olfactory bulbs and optic nerve atrophy was found on imaging in one patient who presented with blindness, epilepsy, and autism spectrum disorder. The other diseases associated with precocious or early puberty are adrenocorticotropic deficiency, dyspraxia and bone abnormalities, glomerulopathy with complete renal failure, and repeated intra-fetal deaths in the mother. Karyotype analysis revealed chromosomal duplication (chromosome 15 in 2 cases; chromosomes 17 and 11 in one case each) in 4 of 8 patients evaluated. Conclusions: Data from patients with complex disease who experience precocious or early puberty may provide clues regarding the genetic determinants of pubertal development.

Data from the population-based Metropolitan Atlanta Developmental Disabilities Surveillance Program (MADDSP) were used to describe the underlying causes of vision impairment (VI; corrected visual acuity in the better eye of 20/70 or worse) in young children (n = 228) in metropolitan Atlanta in 1991-93. Children with VI were identified through record review at multiple educational and medical sources. Children were categorised as having isolated VI or multiple disabilities (i.e. VI plus one or more of four additional developmental disabilities) and as having low vision (visual acuity 20/70-20/400) or blindness (visual acuity worse than 20/400). Medical conditions abstracted from MADDSP sources were reviewed to determine the probable aetiology of a child's VI. Aetiologies were assigned to one of three developmental time periods: prenatal, perinatal, or postnatal. Prenatal aetiologies were identified in 43% of the children; 38% of the prenatal aetiologies were genetic. Perinatal aetiologies were found in 27% of the children. Postnatal aetiologies were rare. Prenatal aetiologies were more common in children with isolated VI; perinatal and postnatal aetiologies were more common in children with multiple disabilities. Children with prenatal aetiologies tended to have less severe vision loss than did children with perinatal or postnatal aetiologies. The distribution varied by birthweight, but did not differ significantly by sex or race.