Thoracoschisis is a rare congenital malformation characterized by herniation of the abdominal content through a defect in the thorax. There are previously 12 reported cases, most discussing the postnatal findings and management. Here we describe a case of left thoracoschisis with associated upper limb abnormality which was diagnosed antenatally with the aid of 3D ultrasound.
We are describing 21 limb reconstruction procedures performed in 18 patients with the use of external fixators from 1996 to 1998. The average age of patients was 21, ranging from 1 to 50 years old. Indications for surgery included short limb, non-union, pseudoarthrosis and bone or soft tissue deformities. Average length obtained for cases of limb lengthening was 6 cm. All the seven clubfoot deformities in five children were fully corrected. Equinus deformity recurred in one foot and was treated with supramalleolar osteotomy. Out of the seven cases with infected nonunion and bone loss, three failed to achieve union and required additional bone grafting procedures. One patient with unilateral external fixator for the correction of tibia shortening developed valgus deformity.
Cavernous lymphangioma is a congenital malformation of lymphatic system causing dilated lymphatic sinuses that involve the skin and subcutaneous tissues. This was an interesting case of dystrophic macrodactyly of the left ring and little finger in a 18-month-old girl who presented with swollen and sausage like fingers deformity which turned out to be an isolated cavernous lymphangioma. This tumor, although rare to occur in the extremeties, must be differentiated from other congenital vascular lesions of the hand that include arteriovenous malformations and hemangiomas. Diagnosis should be solely based on histopathological analysis of the excised tissue mass. Surgical excision is usually necessary for satisfactory functional and cosmetic outcome
Goltz syndrome or Focal Dermal Hypoplasia (FDH) is an uncommon genetically inherited disorder characterized by distinctive skin abnormalities and a wide variety of multisystem defects which was first described by Goltz (an American dermatologist) in 1962. About 200- 300 cases have been reported worldwide. FDH can be inherited in an X-linked dominant manner with in-utero lethality in males. Majority of the cases are sporadic with new mutations arising in the embryo and not inherited from a parent. Approximately 10% of cases occur in males; postzygotic somatic mosaicism accounts for the findings in these affected males. FDH is caused by abnormalities or mutations at the PORCN gene in the X chromosome. We report a case of FDH with characteristic skin lesions as well as multiple digital anomalies - oligodactyly, syndactyly and ectrodactyly.(Copied from article)
The EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip-palate) is a rare disorder inherited as an autosomal dominant trait or can occur sporadically. We describe a case of this syndrome with chronic ocular surface disorder secondary to abnormalities of ocular adnexia.
We describe two Malay male term neonates with congenital limb reduction defects. The first neonate had hypodactyly of limbs associated with micrognathia, microstomia, glossopalatine ankylosis and congenital mitral stenosis. He developed gram-negative septicaemia and died on day 14 of life. The second neonate had tetraperomelia without any other associated congenital abnormality. He developed staphylococcal skin infection which was treated conservatively. Very few cases of congenital limb reduction defects have been reported in the Asian population and we are not aware of any other reports describing Malay infants with the congenital abnormalities described in this report.
Limited data on the survival of anorectal malformation (ARM) patients from lower- and middle-income countries is available. This retrospective population-based study from the State of Johor, Malaysia, determines the incidence, mortality rate, and survival of ARM patients and factors associated with mortality. Kaplan-Meier survival analysis was used to estimate the survival of ARM patients at 1, 5, and 10 years. In addition, multivariate Cox regression analysis was used to analyze mortality-related factors. There were 175 ARM patients among 803,850 live births, giving an overall ARM incidence of 2.2 (95% confidence interval [CI], 1.9 to 2.5) per 10,000 live births. The male-to-female ratio was 1.5:1. There were 122 (69%) non-isolated ARM, of which 41 were Trisomy-21 and 34 had VACTERL association. Seventy-three (42%) had congenital heart disease (CHD), with 38 severe and 35 non-severe CHD. Overall, 33 (19%) patients died, with a median age of death of 5.7 months (interquartile range (IQR) 25 days to 11.2 months). The overall estimated 1-, 5-, and 10-year survival rate for ARM patients was 82% (95% CI, 76-89%), 77% (95% CI, 70-84%), and 77% (95% CI, 70-84%), respectively. Univariate analysis shows that non-isolated ARM, VACTERL association, and severe CHD were associated with mortality. However, only severe CHD is the independent factor associated with mortality, with a hazard ratio of 4.0 (95% CI, 1.9-8.4). Conclusion: CHD is common among ARM patients, and one in five ARM patients had a severe cardiac defect, significantly affecting their survival. What is Known: • VACTERL association and congenital heart disease are common in patient with anorectal malformation. • Low birth weight and prematurity are associated with a lower rate of survival. What is New: • Congenital heart disease is common in ARM patients in a middle-income country. • Severe congenital heart disease plays a significant role in the survival of patients with an anorectal malformation in lower- and middle-income countries.
This is a study on 124 patients who were treated by the authors over a 19-year period. There were 48 male and 76 female patients. The age range of these patients at the time of treatment was between 4 months and 32 years. There was no family history of similar deformity. All of these patients come from a socially low-income group. Fourteen patients had accompanying congenital amputation of fingers, toes, or limbs. Two had oral cleft lip and palate. The surgical treatment was medial orbital wall osteotomy and excision of encephalocele. There were two mortalities and five patients who had complications that needed secondary surgical intervention. Thirty-eight patients are still under follow up without any complaints.
VACTERL association is a rare genetic disorder involving at least three of the following congenital
malformations: vertebral defects (V), anal atresia (A), cardiac defects (C), trachea-oesophageal fistula with
or without oesophageal atresia (TE), renal anomalies (R) and limb abnormalities (L). Until now, the
aetiology of VACTERL association is unknown, particularly at the molecular level. Here, we performed
whole exome sequencing (WES) of an infant with VACTERL association. The patient was delivered
prematurely at 30 weeks and had 4/6 of the VACTERL malformations. Trio-WES analysis was performed
using Torrent Suite and ANNOVAR. Polymorphisms with an allele frequency of >0.01 were excluded, and
the remaining variants were filtered based on de novo mutations, autosomal recessive, X-linked and di-genic
inheritance traits. In this patient, no homozygous, compound heterozygous or X-linked mutations was
associated with VACTERL. However, we identified two heterozygous mutations; KIF27
(ENST00000297814: c.3004A> C:p.N1002H) and GNAS (ENST00000371098: c.205C>A:p.H69N) genes that
were inherited from her father and mother respectively. A de novo, IFT140 gene mutation
(ENST00000426508: c.683C>G:p.S228C) was also identified in this patient. The VACTERL phenotype in
this patient may due to heterozygous mutations affecting KIF27 and GNAS genes, inherited via autosomal
recessive trait. In addition, the IFT140 gene mutation may also be involved. These genes are known to be
directly or non-directly involved in the sonic hedgehog signalling that is known to be implicated in
VACTERL. This is the first report of these genetic mutations in association with VACTERL.
Maternal depression has been linked to the development of adolescents’ emotional and behavioural problems. The main objective of this study was to determine the association between maternal depressive disorders and externalizing and internalizing problems among their adolescent children. This was a cross-sectional, comparison study of 35 mothers with depression and their adolescents, matched with 35 healthy mothers and their adolescents as controls. The mothers completed Quick Inventory Depressive Symptomatology (QIDS) for assessment of current depression. The emotional and behavioural problems in the adolescents were assessed independently by the mothers and their adolescents off-springs using Child Behavioral Checklist (CBCL) and Youth Self-Report (YSR), respectively. SPSS version 12.0 was used for statistical analysis. The findings showed that adolescents who have mothers with depressive disorders had significantly higher scores of externalizing (mean difference = 4.686 + 10.887, p = 0.016) and total emotional and behavioural problems (mean difference = 10.171 + 23.007, p = 0.013) than controls. The cases also scored higher than the controls in the following CBCL syndrome scales: aggressive behaviour (mean difference = 3.200 + 6.773, p = 0.008), social problem (mean difference = 1.286 + 2.865, p = 0.012), and attention problem (mean difference = 1.543 + 4.435, p = 0.047). Mothers with depressive disorders reported that their adolescents have greater emotional and behavioural problems than the controls. The findings suggested a need for preventive strategies to curb problematic behaviour focusing on this vulnerable group.