Amelioration of hypophosphatemic rickets and osteoporosis with pamidronate and growth hormone in Lowe syndromeJia Woei Hou
Department of Pediatrics, Chang Gung Memorial Hospital, Taipei, Taiwan
J Formos Med Assoc 108:730-5. 2009
..The beneficial osseous and renal effects of the bisphosphonate, along with growth hormone treatment in Lowe syndrome with hypophosphatemia, may be related to reduced renal calcium and phosphate excretion...
- Natural course of neonatal progeroid syndrome
Jia Woei Hou
Division of Medical Genetics, Department of Pediatrics, Chang Gung Memorial Hospital, Taoyuan, Taiwan
Pediatr neonatol 50:102-9. 2009
..We discuss the natural course of the syndrome...
Mosaic ring chromosome 14 and monosomy 14 presenting with growth retardation, epilepsy, and blepharophimosisJia Woei Hou
Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, Taipei
Chang Gung Med J 27:373-8. 2004
..2)[84]/45, XY,-14[10]/46, XY, dic r(14)[6]. His seizures responded well to phenobarbital. He has marked growth retardation but less serious delays in mental and motor development than those with ring 14 described in the literature...
- Inherited tandem duplication of the X chromosome: dup(X)(q13.2-q21.2) in a family
Jia Woei Hou
Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, 5, Fushing Street, Gueishan Shiang, Taoyuan, Taiwan 333, ROC
Chang Gung Med J 27:685-90. 2004
..However, the mother was in good health, but the sister suffered from nephrolithiasis. The clinical variability in this family with the Xq duplication is reported and discussed...
- 49, XXXXY syndrome
Jia Woei Hou
Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, Taipei, ROC
Chang Gung Med J 27:551-4. 2004
..He has severe atopic dermatitis with high IgE levels and psychomotor retardation. After heart surgery and nutritional support, he has better growth and the rehabilitation program is continuing...
- Congenital arhinia with de novo reciprocal translocation, t(3;12)(q13.2;p11.2)
Jia Woei Hou
Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, Taoyuan 333, Taiwan
Am J Med Genet A 130:200-3. 2004
..She had a de novo reciprocal translocation between chromosomes 3q13.2 and 12p11.2. Certain gene(s) located at either of the breakpoints, 3q13.2 and 12p11.2, may be involved in the pathogenesis of her arhinia...
- Variable expressivity in a family with Kabuki make-up (Niikawa-Kuroki) syndrome
Jia Woei Hou
Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, Taipei
Chang Gung Med J 27:307-11. 2004
..These findings further suggested the autosomal inheritance (from the father to two sons and one daughter) in KS and highlighted the overlapping phenotype with van der Woude syndrome...
- Electroclinical characteristics of seizures-comparing Prader--Willi syndrome with Angelman syndrome
Pen Jung Wang
Department of Pediatrics, Tzu Chi University and Medical Center, 701, Sec 3, Chung Yang Road, Hualien, Taiwan
Brain Dev 27:101-7. 2005
..Some patients with PWS and AS share the common EEG features of persistent high-amplitude 4-6 Hz activity in recordings during sleep, and while awake. The significance of such EEG findings needs further experience to clarity...
- Trisomy chromosome (22)(q13.1-qter) as a result of paternal inversion (22)(p11q13.1) proved using region-specific FISH probes
Jia Woei Hou
Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, Taoyuan, Taiwan, ROC
Chang Gung Med J 28:657-61. 2005
..This case further delineated the clinical entity of duplicated 22q13 or distal trisomy 22...
- Supernumerary chromosome marker Der(22)t(11;22) resulting from a maternal balanced translocation
Jia Woei Hou
Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, Taoyuan, Taiwan, ROC
Chang Gung Med J 26:48-52. 2003
..3;q11.2). The clinical features, including craniofacial dysmorphism, hypotonia, psychomotor retardation, heart defects, and urogenital anomalies, were the combined effects of partial trisomies for both distal 11q and pericentromeric 22q...
- Double partial monosomies (10p- and Xp-) in a female baby with choanal atresia
Jia Woei Hou
Department of Pediatrics, Chang Gung Children s Hospital, Taoyuan, Taiwan, ROC
Chang Gung Med J 25:260-5. 2002
..No submicroscopic chromosome 22q11 deletion could be found by FISH. Thus this very rare coexistence of double independent partial monosomies was confirmed. There are no previous reports of such concurrent double partial monosomies...
- Fetal warfarin syndrome
Jia Woei Hou
Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, 5, Fushing Street, Gueishan Shiang, Taoyuan, Taiwan 333, ROC
Chang Gung Med J 27:691-5. 2004
..The pathogenesis and management of FWS are discussed...
- Restrictive dermopathy in two sisters
Jia Woei Hou
Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, Taipei, Taiwan, ROC
Chang Gung Med J 26:510-4. 2003
..This kind of stiff skin defect may lead to a fetal akinesia/hypokinesia deformation sequence, which causes the facial abnormalities of RD, as presented in these cases...
- Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis
Jia Woei Hou
Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, Taipei, Taiwan 333, ROC
Chang Gung Med J 27:129-33. 2004
..A plasma tandem mass study confirmed this diagnosis. The biotinase activity in serum was normal, indicating that this was a rare case of late-onset HCS deficiency...
- Successful unrelated mismatched cord blood transplantation in a child with malignant infantile osteopetrosis
Tang Her Jaing
Division of Hematology Oncology, Department of Pediatrics, Chang Gung University and Children s Hospital, Taoyuan, Taiwan
Pediatr Transplant 10:629-31. 2006
..This case suggests that unrelated donor CBT may be a feasible option in case of unavailability of a fully HLA-matched related or unrelated donor...
- Variable expressivity in Patau syndrome is not all related to trisomy 13 mosaicism
Hui Fang Hsu
Department of Pediatrics, Chang Gung Children s Hospital, Taoyuan, Taiwan
Am J Med Genet A 143:1739-48. 2007
..Less associated anomalies such as polyhydramnios, oligohydramnios, intrauterine growth retardation, single umbilical artery, eye defects, holoprosencephaly, omphalocele, and polycystic kidney may contribute to their clinical courses...
- Del (9p) syndrome: report of four cases
Jia Woei Hou
Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, No 5, Fu Shin Street, Kweishan, Taoyuan, Taiwan
Acta Paediatr Taiwan 44:50-3. 2003
..Long-term follow-up in these patients showed that neuro-psychiatric problems were common in their later ages...
- A 20-year follow-up of a male patient with type Ia glycogen storage disease
Jia Woei Hou
Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, 5 7, Fushing Street, Gueishan Shiang, Taoyuan, Taiwan 333, ROC
Chang Gung Med J 26:283-7. 2003
..The problem of delayed puberty persisted. The story of this patient illustrates the multisystemic nature of GSD Ia and highlights the need for careful dietary therapy and long-term follow-up...
- Van der Woude syndrome: clinical presentation in 64 patients
Jung Ju Huang
Craniofacial Center, Department of Plastic and Reconstructive Surgery, Chang Gung Memorial Hospital, Chang Gung University, Taoyuan, Taiwan
Cleft Palate Craniofac J 44:649-52. 2007
..Van der Woude syndrome, characterized by lip pits and cleft lip/ palate, presents with variable expressions. This retrospective study was designed to obtain a better understanding of its clinical pattern in Taiwanese patients...
- Matched unrelated bone marrow transplantation without splenectomy for a child with Gaucher disease caused by homozygosity of the L444P mutation, who also suffered from schizencephaly
Rong Long Chen
Department of Pediatrics, Buddhist Tzu Chi University, Hualien, Taiwan
J Pediatr Hematol Oncol 29:57-9. 2007
..The strategy of BMT without splenectomy after a period of enzyme replacement may be feasible in neuronopathic GD...
- Atlantoaxial subluxation with recurrent consciousness disturbance in a boy with Lesch-Nyhan syndrome
Jia Woei Hou
Division of Medical Genetics, Department of Paediatrics, Chang Gung Children s Hospital, Taoyuan, Taiwan
Acta Paediatr 95:1500-4. 2006
..This report highlights the unusual AAS in a boy with LNS presenting recurrent consciousness change. The mutation described herein is a hitherto unreported splicing error leading to exon 6 skipping of the HPRT gene...
- Detection of gene deletions in children with chondrodysplasia punctata, ichthyosis, Kallmann syndrome, and ocular albinism by FISH studies
Jia Woei Hou
Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, Taoyuan, Taiwan, ROC
Chang Gung Med J 28:643-50. 2005
..3 region to be responsible for genetically heterogeneous diseases. In this study, fluorescence in situ hybridization (FISH) methods were used to detect the extent of gene deletion related to the phenotypes of patients with Xp-CGS...
- Developmental profiles and mentality in preschool children with Prader-Willi syndrome: a preliminary study
Chien Min Chen
Department of Physical Medicine and Rehabilitation, Chang Gung Memorial Hospital at Chiayi, Chang Gung University College of Medicine, Taoyuan, Taiwan
Chang Gung Med J 33:436-42. 2010
..A majority of the children with Prader-Willi syndrome (PWS) have global developmental delay and mental delay. The aim of this study was to investigate the developmental profiles and mental assessments among preschool children with PWS...
