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PubMed2006

Two brothers with Goldberg-Shprintzen syndrome.

Goldberg-Shprintzen syndrome is a rare autosomal recessive condition that describes the association of Hirschsprung disease with microcephaly, developmental delay and characteristic facies. We describe two brothers from a non-consanguineous family who have classical features of Goldberg-Shprintzen syndrome. The novel findings in this instance are of foot anomalies including camptodactyly and clinodactyly of the 2nd to 4th toes, which have not been previously described in Goldberg-Shprintzen syndrome.

Abnormalities, Multiple↗

PubMed1993

Marden-Walker syndrome: a case report and a critical review of the literature.

We present a patient with blepharophimosis, joint contractures, immobile facies, decreased muscular bulk, postnatal growth retardation, developmental delay, micrognathia, cleft palate, camptodactyly, arachnodactyly, pectus, kyphoscoliosis, hypospadias, and absent deep tendon reflexes. These findings are consistent with Marden-Walker syndrome (MWS). Twenty-two additional cases in the literature are reviewed. Diagnostic criteria are proposed, and the spectrum of variability is discussed. Evidence for autosomal recessive inheritance is reviewed as is the differential diagnosis. Possible pathogenetic mechanisms are considered.

Abnormalities, Multiple↗

PubMed2005

Hypopituitarism and neurodevelopmental abnormalities in relation to central nervous system structural defects in children with optic nerve hypoplasia.

OBJECTIVE: Optic nerve hypoplasia (ONH) is a heterogeneous disease with variable findings of pituitary insufficiency, CNS and neurodevelopmental abnormalities. We characterized the spectrum of endocrinopathy in a cohort of children with ONH and attempted to correlate the presence of different midline CNS findings with the degree of hypopituitarism. The correlation of variable CNS abnormalities with the presence of a seizure disorder and neurodevelopmental delay was also examined. METHODS: Charts of 56 patients with ONH referred to our endocrine clinics between 1990 and 2000 were reviewed. Neurodevelopmental assessment was based on questionnaires sent to families during the study period. RESULTS: Forty-six patients (82%) had hypopituitarism, with growth hormone deficiency being the most common endocrinopathy. All patients with diabetes insipidus, hypocortisolism, and hypogonadotropin hypogonadism also had combined pituitary hormone deficiency. Evolving pituitary hormone deficiency was observed in two of 37 patients diagnosed with hypopituitarism in the first 3 years of life. No single midline CNS finding correlated with the presence of hypopituitarism or a seizure disorder. However, hydrocephalus or a seizure disorder was more commonly seen in patients with developmental delay. CONCLUSION: ONH is a heterogeneous disorder with possible multifactorial etiologies. All patients with this diagnosis deserve a comprehensive endocrine and neurodevelopmental evaluation.

Adolescent↗

PubMed1994

Duplication 20p identified via fluorescent in situ hybridization.

A 3-year-old girl is reported with dup (20p) resulting from 3:1 segregation of a de novo t(20;21). The proposita presented with minor anomalies, developmental delay, a clinical phenotype suggestive of 20p trisomy, and a karyotype with a 21p+ and an additional small marker chromosome. Conventional cytogenetic techniques were not informative for the identification of the origin of the extra material of chromosome 21p nor for the marker chromosome. The 21p+ and marker chromosomes were successfully characterized using fluorescent in situ hybridization (FISH).

Child, Preschool↗

PubMed1995

Neuropsychological deficits in very young bone marrow transplant recipients.

Bone marrow transplantation (BMT) involves conditioning with cyclophosphamide and, for patients with malignant disease, total body irradiation (TBI). This study describes the neuropsychological development of 10 children treated for leukemia (n = 7), neuroblastoma (n = 1) or severe aplastic anemia (SAA; n = 2) at 3 years of age or younger. A moderate general developmental delay, with pronounced motor deficits and varying degrees of perceptual and cognitive problems, was observed in all children treated for malignant disease. Children treated for SAA had normal development. We conclude that BMT, including TBI, can be directly associated with long-term neuropsychological impairment in children treated at a very young age. Continued medical and psychological follow-up procedures are needed.

Age Factors↗

PubMed2004

Another patient with chromosome 18 deletion syndrome and juvenile rheumatoid arthritis.

Previously, 4 children with deletion of the long arm of chromosome 18 and chronic arthritis were reported. We present an 8-year-old girl with arthritis, atrial septal defect, external auditory canal atresia, and developmental delay. She is the fifth child reported with 18q- syndrome and juvenile rheumatoid arthritis. Evidence is mounting that genetic loci on chromosome 18 may play a role in the expression of complex autoimmune diseases. Idiopathic arthritis should be considered as a potential additional feature in 18q- syndrome.

Anti-Inflammatory Agents, Non-Steroidal↗

PubMed2000

Expression of Shal potassium channel subunits in the adult and developing cochlear nucleus of the mouse.

The pattern of expression of potassium (K(+)) channel subunits is thought to contribute to the establishment of the unique discharge characteristics exhibited by cochlear nucleus (CN) neurons. This study describes the developmental distribution of mRNA for the three Shal channel subunits Kv4.1, Kv4.2 and Kv4.3 within the mouse CN, as assessed with in situ hybridization and RT-PCR techniques. Kv4.1 was not present in CN at any age. Kv4.2 mRNA was detectable as early as postnatal day 2 (P2) in all CN subdivisions, and continued to be constitutively expressed throughout development. Kv4.2 was abundantly expressed in a variety of CN cell types, including all of the major projection neuron classes (i.e., octopus, bushy, stellate, fusiform, and giant cells). In contrast, Kv4.3 was expressed at lower levels and by fewer cell types. Kv4.3-labeled cells were more prevalent in ventral subdivisions than in the dorsal CN. Kv4.3 expression was significantly delayed developmentally in comparison to Kv4.2, as it was detectable only after P14. Although the techniques employed in this study detect mRNA and not protein, it can be inferred from the differential distribution of Kv4 transcripts that CN neurons selectively regulate the expression of Shal K(+) channels among individual neurons throughout development.

Animals↗

PubMed2004

Growth hormone deficiency, anorectal agenesis, and brachycamptodactyly: a phenotype overlapping Stratton-Parker syndrome.

Stratton and Parker [1989] described a 17-month-old boy with the previously unreported combination of growth hormone (GH) deficiency, Wormian bones, mild developmental delay, brachycamptodactyly, heart defects, kidney hypoplasia, imperforate anus, bilateral cryptorchidism, and facial anomalies. A similar case was later reported by Gabrielli et al. [1994], who suggested the existence of a "Stratton-Parker syndrome." Here, we describe a boy with isolated GH deficiency, body asymmetry, and brachycamptodactyly. At birth, complete anorectal agenesis and cryptorchidism were detected, which required surgical treatment. Radiographic examination showed the presence of bilateral proximal radioulnar subluxation and Kirner anomaly. Brain MRI showed asymmetry of the posterior horns of the lateral ventricles and enlarged cisterna magna. Psychomotor development had been mildly delayed during the first years of life. Due to the unique association of GH deficiency with intestinal, genital, and limbs abnormalities, we believe that our patient may represent a further case of Stratton-Parker syndrome. All patients reported, till date, are sporadic males born to healthy nonconsanguineous parents. X-linked recessive inheritance is a possibility to consider.

Abnormalities, Multiple↗

PubMed2001

Congenital varicella syndrome: case with isolated brain damage.

We report a case of congenital varicella syndrome after maternal infection during the 10th week of pregnancy. None of the typical abnormalities were manifested at birth; however, the child experienced neonatal tonic convulsions that evolved to refractory focal epilepsy with adversive, complex partial, and secondarily generalized seizures. At the age of 5 years, after a prolonged generalized seizure following cranial trauma, cranial computed tomography (CT) was performed. It led to the misdiagnosis of post-traumatic intracerebral hemorrhage. Afterwards, because of persistent seizures and developmental delay with mild or slight intellectual deficit, the next CT and magnetic resonance imaging (MRI) investigation at 8 years of age disclosed massive malformation of the left cerebral hemisphere. The serologic evidence of varicella-zoster virus-specific IgG antibodies without a history of varicella disease after birth and maternal infection during early pregnancy were crucial to diagnosing the rare syndrome of congenital varicella consisting of isolated brain damage.

Brain↗

PubMed2004

Early social attention impairments in autism: social orienting, joint attention, and attention to distress.

This study investigated social attention impairments in autism (social orienting, joint attention, and attention to another's distress) and their relations to language ability. Three- to four-year-old children with autism spectrum disorder (ASD; n = 72), 3- to 4-year-old developmentally delayed children (n = 34), and 12- to 46-month-old typically developing children (n = 39), matched on mental age, were compared on measures of social orienting, joint attention, and attention to another's distress. Children with autism performed significantly worse than the comparison groups in all of these domains. Combined impairments in joint attention and social orienting were found to best distinguish young children with ASD from those without ASD. Structural equation modeling indicated that joint attention was the best predictor of concurrent language ability. Social orienting and attention to distress were indirectly related to language through their relations with joint attention. These results help to clarify the nature of social attention impairments in autism, offer clues to developmental mechanisms, and suggest targets for early intervention.

Attention↗

PubMed2004

Trisomy 14pter --> q21: a case with associated ovarian germ cell tumor and review of the literature.

We report a patient with trisomy X and a supernumerary marker chromosome. The marker chromosome was characterized by comparative genomic hybridization and shown to be derived from chromosome 14, resulting in trisomy for 14pter --> q21. The karyotype was thus redefined as 48,XXX,+mar.rev ish enh(14pterq21). The patient presented with facial dysmorphism and a high-pitched cry, exhibited severe developmental delay, and developed an aggressive ovarian immature teratoma. In this paper, we also review reports of 11 other patients with constitutional trisomy of the same chromosomal region. Previous studies have identified somatic gains of chromosome 14 in ovarian germ cell tumors. We propose that the constitutional gain of chromosomal 14 material may have predisposed to the development of this tumor.

Abnormalities, Multiple↗

PubMed2004

Carbohydrate deficient glycoprotein syndrome type Ia.

Carbohydrate deficient glycoprotein syndromes (CDG) are inherited multisystem disorders characterized by the abnormal glycosylation of a number of serum glycoproteins. CDG-Ia results from deficiency of phosphomannomutase that catalyzes the conversion of mannose-6-phosphate to mannose-1-phosphate in the cytosol. We report a case of CDG-Ia in an 11-month-old girl with developmental delay, failure to thrive, inverted nipples and abnormal fat pads. The abnormal pattern of transferrin glycosylation and phosphomannomutase activity assay confirmed the diagnosis of CDG type Ia. Unfortunately, an efficient treatment is still not available for CDG type Ia patients. This is the first report of a Taiwanese patient with this syndrome.

Adipose Tissue↗

PubMedDate not supplied

[Familial subtelomeric abnormality der(4)t(4p16.3;21q22.3) as a cause of mental retardation and mild dysmorphic features].

A 3-year-old girl with developmental delay, dysmorphic features, hypotonia and microcephaly is presented. Fluorescence in situ hybridization (FISH) with subtelomeric probes (Multiprobe Chromoprobe T System) revealed monosomy and trisomy of subtelomeric regions 4p and 21q respectively. Clinical and pedigree data were analyzed and the phenotype -genotype correlation for partial monosomy 4p and trisomy 21q identified in the proband is also presented.

Child, Preschool↗

PubMed2001

Dominant inheritance of sialuria, an inborn error of feedback inhibition.

"French type" sialuria, a presumably dominant disorder that, until now, had been documented in only five patients, manifests with mildly coarse facies, slight motor delay, and urinary excretion of large quantities (>1 g/d) of free N-acetylneuraminic acid (NeuAc). The basic defect consists of the very rare occurrence of failed feedback inhibition of a rate-limiting enzyme, in this case uridinediphosphate-N-acetylglucosamine (UDP-GlcNAc) 2-epimerase, by a downstream product, in this case cytidine monophosphate (CMP)-NeuAc. We report a new patient with sialuria who has a heterozygous G-->A substitution in nucleotide 848 of the epimerase gene, which results in an R266Q change. The proband's other allele, as expected, had no mutation. However, the heterozygous R266Q mutation was detected in the patient's mother, who has similarly increased urinary levels of free NeuAc, thereby confirming, for the first time, the dominant mode of inheritance of this inborn error. The biochemical diagnosis of the proband was verified by the greatly increased level of free NeuAc in his cultured fibroblasts, the NeuAc distribution, mainly (59%) in the cytoplasm, and by the complete failure of 100 microM CMP-NeuAc to inhibit UDP-GlcNAc 2-epimerase activity in the mutant cells. These findings call for expansion of the phenotype to include adults and for more-extensive assaying of free NeuAc in the urine of children with mild developmental delay. The prevalence of sialuria is probably grossly underestimated.

Adult↗

PubMed2000

An inherited functional circadian clock in zebrafish embryos.

Circadian clocks are time-keeping systems found in most organisms. In zebrafish, expression of the clock gene Period3 (Per3) oscillates throughout embryogenesis in the central nervous system and the retina. Per3 rhythmic expression was free-running and was reset by light but not by the developmental delays caused by low temperature. The time of fertilization had no effect on Per3 expression. Per3 messenger RNA accumulates rhythmically in oocytes and persists in embryos. Our results establish that the circadian clock functions during early embryogenesis in zebrafish. Inheritance of maternal clock gene products suggests a mechanism of phase inheritance through ovogenesis.

Amino Acid Sequence↗

PubMed1982

Effect of concanavalin A on the formation of the mouse blastocyst.

Culture of precompact zona-free mouse embryos in the plant lectin concanavalin A (Con A) at 20 micrograms/ml inhibits blastocyst formation. Cell division is retarded compared with control embryos, compaction of the morula is prevented, and fluid accumulation occurs within but not between cells. As little as two hours of incubation in Con A can cause developmental delay and an eventual increased incidence of lysis, and although embryos can recover from more prolonged pulses of Con A, the blastocysts formed are often abnormal. Blastocyst formation occurs in some embryos, but does not do so unless at least some cells have undergone a fifth round of cell division before incubation in the lectin. However, not all embryos that contained more than 32 cells compacted and showed intercellular fluid accumulation in Con A. Thus, blastocyst formation is not restricted solely by an inhibition of cell division or a reduction in cell number, but is also impaired by interference of the lectin with the cell surface and its interactions. Morulae bind divalent Con A and monovalent succinyl-Con A similarly, but developmental interference is absent with the latter, suggesting that divalent Con A acts through a cross-linking of surface receptors.

Animals↗

PubMed1995

Attentional control over language lateralization in dyslexic children: deficit or delay?

Two previous verbal dichotic studies by Kershner and Morton (Neuropsychologia 28, 181-198, 1990) using the forced-attention methodology (Bryden, Strategies of Information Processing, Academic Press, London, 1978) demonstrated that the order in which the ears were monitored (LE first or RE first) determined whether learning disabled children compared to age-matched nondisabled children were more weakly or strongly lateralized. The same technique was used with the addition of controls for lateral head and eye movements, specific diagnostic criteria to include only phonological dyslexics, IQ and reading level. Dyslexic vs age-matched comparisons replicated the previous studies. The dyslexics produced a weaker REA in the LE first order but a greater number of subjects with a REA in the RE first order. Reading-matched comparisons suggested that the order-specific reduced REA in the dyslexics may reflect a causal deficit of the disorder, whereas the order-specific increase in the number of dyslexic subjects with a REA was no different than the reading-matched group, implicating a developmental delay. The results suggest that children with dyslexia may suffer from a primary attentional impairment in altering the REA. This implicates an underlying difficulty of flexible verbal processing in response to the rapidly changing cognitive requirements of reading.

Attention↗

PubMed1986

Midforceps deliveries: long-term outcome of infants.

Infants delivered by midforceps between 1976 and 1982 were evaluated for evidence of developmental delay or neurological deficit by chart review. The 110 infants who were followed for at least 2 years were compared to a matched group of infants delivered by cesarean section. The cesarean section group was matched for the immediate indication for delivery (dystocia or fetal distress), birth weight, gestational age, sex, and race. There was no significant difference in abnormal outcomes in the two groups.

Birth Injuries↗

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