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Deletion of chromosome 18q (18q-) is a survivable autosomal abnormality, having an estimated incidence of one in 40,000 live births. Common features of affected individuals include developmental delay, growth retardation, hearing impairment, delayed myelination of the brain, and craniofacial dysmorphism. We describe herein a girl with psychomotor retardation and characteristic midface hypoplasia. The clinical, radioimaging, and cytogenetic findings as occur in 18q- are compared with a terminal deletion in the long arm of chromosome 18. We also monitored the effects of growth hormone treatment for changes in growth, and the patient's height velocity increased from 3.5 cm/yr to 7 cm/yr. Her nonverbal intelligence quotient (nIQ) increased from 30 to 48. Cognition of this patient is significantly improved. However, the brain MRI was not significantly improved after growth hormone treatments changes.

Kabuki make-up syndrome (Niikawa-Kuroki syndrome) is a rare congenital disorder of unknown etiology characterized by a dysmorphic face, postnatal growth retardation, skeletal abnormalities, mental retardation, and unusual dermatologic patterns. The latter include long palpebral fissures, broad eye brows sparse in the lateral half, prominent eyelashes, lower lateral palpebral ertropia, and depressed nasal tips. We describe a 13-year-old girl with short stature, delayed puberty, mental retardation, and typical face characteristics of Kabuki make-up syndrome. High-resolution banding chromosome analysis revealed a mos 45,X/46,X,r(X) karyotype. Fluorescence in situ hybridization detected a positive XIST gene signal. XIST expression was demonstrated by reverse transcription polymerase chain reaction using primers spanning exons 2, 3, 4, 5 in RNA prepared from lymphocytes. To our knowledge, this is the first description of Kabuki syndrome manifestation with r(X) and XIST expression in Taiwan.

Trisomy 18 syndrome is the second most common multiple malformation syndrome. The incidence is about 0.3 per 100 newborn babies. More than 130 different abnormalities have been noted in the literature on patients with the trisomy 18 syndrome. Trisomy 18 includes a broad spectrum of anomalies and malformations, among which we found Dandy-Walker malformation (DWM) rarely mentioned. DWM is estimated to occur in approximately 1 in 25,000 to 30,000 live births. The major components of DWM are the following: partial or complete absence of the cerebellar vermis, a posterior fossa cyst continuous with the fourth ventricle, and hydrocephalus. Although DWM has been associated with many chromosomal abnormalities and genetic syndromes in live birth, trisomy 18 with DWM is a rare condition. Here we present a female newborn with intrauterine growth retardation and multiple congenital abnormalities including: craniofacial anomaly, tracheoesophageal fistula, esophageal atresia, absent radius and thumb, short ulna, clenched hands, ventricular septal defect, coarctation of the aorta, patent ductus arteriosus, Meckel's diverticulum, ectopic pancreas in the ileum, and DWM. Her chromosome karyotype was 47,XX,+18. This is a case of Trisomy 18 with multiple rare malformations.

Chromosomal analysis is routinely considered in all girls--but not boys-of short stature to screen for Turner syndrome. We report three patients of short stature (body height3rd percentile) with 45,X/46,XY mosaicism karyotype. They were brought to our outpatient department at the ages of 10, 13, and 18 years, respectively. Two of them had some stigmata of Turner syndrome. Two were treated with growth hormone. In the first patient, body height increased by 20 cm in 3 years 7 months. The second case increased by 6.5 cm in 8 months. We suggest that boys with unexplained short stature should be screened with chromosomal analysis, and growth hormone treatment should be offered to boys of short stature and 45,X/46,XY mosaicism before the epiphyseal plates close.

Chromosome 21 is the smallest human chromosome; it contains 1.7% of the human genome, or about 54,000 kb. Multiple abnormalities have been observed in patients with a deletion of the long arm of chromosome 21. Phenotypic variability between cases involving different deletions of 21q have been described. We report four cases of deletion (21)(q11.2-q22.1). Three of the reported cases are familial, involving a mother and her two sons, and one is de novo. All cases had mild mental retardation, antimongolian slants, long philtrum, and protruding tongue as well as open mouth. Hypertonia was noted when each was young. Arachnoid cyst, cerebral dysfunction, thalassemia minor, and growth hormone deficiency were found in the de novo case. This is the first report of chromosomal deletion (21)(q11.2-q22.1) in the Taiwanese population.

Decreased fertility is one of the characteristics of Turner syndrome. Ovarian function in women with Turner syndrome is believed to be impaired because of an abnormal and very rapid maturation of oocytes and follicles. About 30% of mosaic Turner patients have partial ovarian function during puberty, but only 2-5% of them will ever become pregnant. We describe a woman with a mosaic form of Turner syndrome (45,X [6]/146,XX [94] karyotype from blood lymphocytes), who had a spontaneous puberty and normal fertility. After her second pregnancy, she gave birth to a set of monozygotic female twins; Twin B presented with a mild Turner syndrome phenotype and Twin A with a normal female phenotype. Karyotypic analysis performed on amniotic fluid and fetal blood samples demonstrated a normal 46,XX chromosome constitution in Twin A and a 45,X/46,XX mosaicism (27%:73% for amniotic fluid and 6%:94% for fetal blood) in Twin B. Postnatal cytogenetic investigation of blood lymphocytes showed the 45,X [7]/46,XX [93] mosaicism in Twin B. Further investigations of blood lymphocytes in both girls at the age of 4 years showed Twin A with a 46,XX karyotype and Twin B with a 45,X [4]/46,XX [96] mosaicism. The phenotype of twin A had a normal appearance, but webbing of the neck, low posterior hair line, shield chest, and mild psychomotor retardation were evident in Twin B.

Neonatal startle disease or stiff baby syndrome is a rare hereditary disease. It is often misdiagnosed as either neonatal seizure or cerebral palsy because of its characteristic exaggerated fits, which can be activated by external voice or touch. In fact, the exact diagnosis can be made easily according to the patient's family history and clinical examination at bedside. Glabellar tapping is a method to elicit the exaggerated responses, and the events can be relieved by forced knee-chest position. Herein, we report one case with hereditary startle disease accompanied with cyanosis and severe apneas, which could be relieved by forced knee-chest position and oral clonazepam. In conclusion, we suggest the diagnosis of the startle disease should be considered when newborns present the symptoms of neonatal seizure. Once the disease is noticed, we can pursue a simple method to confirm the diagnosis at bedside and unnecessary examination like magnetic resonance imaging can be avoided.

Goldenhar syndrome, also known as oculoauriculovertebral dysplasia, is an uncommon condition, characterized by a combination of anomalies: epibulbar dermoids or lipodermoids, preauricular appendices, malformation of the ears, hemifacial microsomia, vertebral anomalies, and others. The etiology of this disease has remained unclear; factors including chromosomal abnormalities, maternal diabetes mellitus or drug use, and influence of environment during pregnancy have been proposed. Here, we describe a case of Goldenhar syndrome in a 1-day-old female newborn, who presented with right external ear atresia, left preauricular appendices, cleft-like extension of the right oral angle, mandibular hypoplasia and relatively small hands. The literature on Goldenhar syndrome is briefly reviewed.

To examine the relationship between leptin serum levels and pubertal development in girls with progressive central precocious puberty. We longitudinally investigated the leptin levels of 37 girls with central precocious puberty before and during treatment with the gonadotropin-releasing hormone agonist depot (leuprorelin acetate). Leptin and other hormone levels were determined by radioimmunoassay. Girls with central precocious puberty before treatment showed no significant difference in leptin levels as compared to the puberty stage at diagnosis of disease. In addition, the changes in leptin concentrations of girls with central precocious puberty during treatment were not statistically significant. In the Spearman correlation analysis of leptin levels with body mass index, bone age, chronological age, clinical pubertal signs along with luteinizing, follicle-stimulating, and estradiol hormone levels, we found that body mass index, weight, and chronological age were significantly correlated with leptin levels (p0.05) at both 3 and 6 months of leuprorelin treatment. Leptin levels increased with body mass index; however, this trend did not reach statistical significance at all follow-up time points. These data demonstrated that treatment with depot gonadotropin-releasing hormone agonist does not influence leptin concentrations. Serum leptin levels in patients with central precocious puberty are associated with body weight and body mass index.

Enteroviral infections are more severe in neonates than in older children, and coxsackievirus B is most frequently associated with severe neonatal disease. We summarize the course and clinical data of four neonates with meningitis caused by coxsackievirus B5. Their clinical symptoms and signs were persistent fever, poor appetite, and decreased activity, with vomiting in two. Laboratory analysis of cerebrospinal fluid revealed the following: white blood count, 340-660/mm3; red blood count, 0-250/ mm3; glucose level, 47-59 mg/dl; and total protein level, 70-106 mg/dl. Echocardiography showed normal heart function. Final bacterial cultures of the cerebrospinal fluid showed no growth, whereas viral cultures showed coxsackievirus B5. All patients recovered without intravenous immunoglobulin. No complications occurred at 6-month follow-up.

The cutaneous lesions of incontinentia pigmenti classically evolve in stages, beginning with erythematous vesicular rash and bullae, followed by verrucose lesions, with an eventual macular pattern of splashed or whorled hyperpigmentation. We describe female twins presenting with the classic form of cutaneous expression. Ophthalmologic examination revealed abnormal vascular proliferations in the peripheral retinas in twin B. Several studies have confirmed linkage of familial incontinentia pigmenti to chromosome Xq28, with the factor VIII gene in Xq28 identified as the locus for incontinentia pigmenti. Two-hundred kilobases proximal to this locus, the gene for NEMO (NF-kappaB essential modulator)/IKKgamma (I kappaB kinase-gamma) has been mapped. We describe herein female twins with incontinentia pigmenti caused by a de novo mutation of this locus, as demonstrated by diagnostic polymerase chain reaction.

Aniridia is a rare condition occurring in 1 in 64,000 to 1 in 96,000 live births. Approximately one third of cases are sporadic and carry a 30% risk of Wilms' tumor developing before the age of 5. The remaining 66% are inherited in an autosomal dominant fashion. The aniridia candidate gene (PAX6) has a key role as a master regulator in the development of eye and central nervous tissues. The Wilms' tumor predisposing gene (WT1) plays an important role in the development of genitourinary tract diseases such as hypospadias, cryptorchism, horse-shoe kidney, and Wilms' tumor. The WT1 and PAX6 genes are about 700 kb apart, with the WT1 gene located centromeric to PAX6 in chromosome 11p13. We report a patient with incomplete aniridia, ptosis, hypospadias, and cryptorchism. Cytogenetic analysis revealed the presence of a de novo reciprocal translocation 46, XY, t (2; 11) (p25.1; p13) without microscopic deletion. We suggest that haploinsufficiency in PAX6 and WT1 genes resulted in aniridia and associated genitourinary abnormalities.

Leptin, a hormone that signals the brain about the status of body (fat) energy stores, has recently been shown to play a role in the regulation of several hypothalamic pituitary axes, including the growth hormone axis. To investigate a potential association of serum leptin concentrations and clinical condition in preterm, sick term and healthy term newborns, serum leptin concentrations were evaluated in 104 newborns. Twenty-eight of them were healthy term (18 males and 10 females; gestational age, 37-42 weeks), 21 were sick term (12 males and 9 females; gestational age, 37-42 weeks) and 55 were preterm neonates (35 males and 20 females; gestational age: 26-37 weeks). Leptin values correlate positively with birth weight, birth length, head circumference, waist circumference, hip circumference, body surface, weight/length ratio, and gestational age (r = 0.38, 0.42, 0.29, 0.21, 0.29, 0.40, 0.31 and 0.28), respectively. The concentrations of leptin are statistically significantly higher (p0.05) in term neonates (3.02 +/- 2.94 ng/ml) than preterm neonates (1.93 +/- 2.21 ng/ml). Female infants also have significantly higher (p0.05) serum leptin values than male infants in preterm and healthy term groups. We also found leptin present in venous blood after 26 weeks of gestation.