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Biomedical subjects

S Aftimos

Publications and source records attributed to S Aftimos.

At least 19 recordsLinked to original sources
PubMed2001

Toriello-Carey syndrome: case report with additional findings.

Toriello-Carey syndrome comprises agenesis of the corpus callosum, telecanthus, small palpebral fissures, Pierre Robin sequence, abnormal ears, nuchal laxity and cardiac defects. We report on a female patient who has some additional findings including an anteriorly placed anus. This anomaly adds to the list of other midline anomalies seen in this syndrome. We compare the findings to those seen in the Opitz BBBG syndrome, a well-defined syndrome of the midline developmental field. Our patient, having a severe manifestation of complicated congenital heart disease, died in the neonatal period, which argues against the likelihood that this is an X-linked disorder with more severe manifestations in males.

Abnormalities, Multiple↗
PubMed2001

Clinical phenotypes of nine cases of Kabuki syndrome from New Zealand.

Nine cases of Kabuki syndrome have been identified in Auckland and surrounding regions in the North Island, New Zealand since 1995. All have the characteristic facial dysmorphism and many of the well-described associated anomalies. Some of the abnormalities were unusual including a case with severe congenital mitral stenosis, two cases of eventration of the diaphragm, idiopathic thrombocytopaenic purpura and vitiligo. One child had an Arnold Chiari type 1 malformation and another had epibulbar dermoids, neither of which has previously been reported in this syndrome. There was a wide diversity of ethnic origin, with the syndrome being described in patients from the Pacific Islands for the first time. The cases described emphasize the broad range of associated anomalies found in Kabuki syndrome and further illustrate its presence in all ethnic groups.

Abnormalities, Multiple↗
PubMed2000

Trisomy of 3pter in a patient with apparent C (trigonocephaly) syndrome.

The C syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) syndrome first described in sibs. The inheritance has been assumed to be autosomal recessive. Several authors have commented that the combination of anomalies found in the conditions suggest an underlying chromosomal anomaly and in a few apparent cases chromosome anomalies have been described. Our patient had findings consistent with the C syndrome and a duplication of 3p by use of subtelomere probes. This shows that new cytogenetic techniques continue to be important in defining the underlying cause of MCA/MR conditions.

Abnormalities, Multiple↗
PubMed1999

A patient with VACTERL association, amelia and hemifacial microsomia.

We report on a girl with anal atresia, renal aplasia, vertebral and rib anomalies, amelia and hemifacial microsomia. The patient demonstrates the overlap between the VACTERL association and the oculoauriculovertebral dysplasia. We propose that amelia is a severe manifestation of the limb defects which occur in these developmental dysplasias.

Abnormalities, Multiple↗
PubMed1998

Report of two sibs with Knobloch syndrome (encephalocoele and viteroretinal degeneration) and other anomalies.

We report on two sibs with high myopia, vitreoretinal degeneration (VRD), and occipital encephalocoele or scalp lesion. We review the literature on Knobloch syndrome, discuss possible causes, and suggest a possible involvement of mesoderm in the morphogenesis. One case presents with very early onset of severe eye disease, whereas the other is notable for the very mild scalp defect. In addition, both appear to have an unusual pulmonary lymphatic condition.

Abnormalities, Multiple↗
PubMed1998

X-linked dominant chondrodysplasia punctata: a peroxisomal disorder?

X-linked dominant chondrodysplasia punctata is characterised by resolving irregular punctate calcifications of epiphyses, variable ichthyosis and atrophoderma, short stature, and cataracts. We report on a patient with this syndrome who had transiently abnormal peroxisomal function tests. We review the literature and propose that X-linked dominant chondrodysplasia punctata is a peroxisomal disorder and that its phenotype can be explained by X chromosome lyonisation and the relative proliferation of cells expressing the normal X allele.

Chondrodysplasia Punctata↗
PubMed1997

Cerebral infarction in Noonan syndrome.

We report on an infant with severe Noonan syndrome, chylothoraces, and hepatosplenomegaly who suffered two episodes of cerebral infarction before age 6 months. No underlying cause for these events was found. The presentation is discussed in relationship to other reports of stroke in Noonan syndrome which have previously been associated with underlying vascular malformations.

Adult↗
PubMed1997

Developmental outcome at 18 months of children less than 1000 grams.

AIMS: Aims of this paper were to carry out an audit of 105 extremely low birth weight infants at 18 months of age, identifying problems, disseminating the resulting information and providing a basis for future work. METHODS: Children born in 1990-2 were classified in categories I to IV according to outcome, and selected perinatal variables were analysed for these groupings. RESULTS: The disability rate (categories I and II) within this cohort was 21% a similar finding to that reported in other literature. For the group with slow motor development and/or tonal abnormalities the percentage was 15. Despite the high risk nature of this group 64% of children were progressing well (category IV) at this age. No significant differences in outcome were found between small for gestational age and appropriate weight for gestational age infants. Significant results were demonstrated in the adverse effects of chronic lung disease and intraventricular haemorrhage on subsequent development. CONCLUSION: The information obtained from this study provides support for the use of this type of audit in Units with extremely low birth weight populations.

Developmental Disabilities↗
PubMed1989

Myofascial pain in children.

Five children with acute and chronic regional myofascial pain syndromes, involving the sternomastoid, the external oblique, the rectus abdominis and the biceps femoris, are described. The trigger points were treated initially by vapocoolant therapy followed by muscle stretching, and subsequently by moist heat applications and continuing muscle stretching. The pain resolved in all cases. Such syndromes received little attention in the medical literature, and consequently, affected patients have been given alternative diagnoses. The article seeks better recognition of such syndromes in order to provide adequate and appropriate management.

Acute Disease↗
PubMed1986

Reflex neurovascular dystrophy in children.

Six children with reflex neurovascular dystrophy are described. The clinical characteristics are discussed, and the contrasting features between the adult and childhood syndrome are considered. The importance of early diagnosis and appropriate therapy is stressed.

Adolescent↗
PubMed1986

BCG osteitis: a case report.

Osteomyelitis of the left tibia of a two year old boy secondary to neonatal BCG immunisation is described. He made a good recovery following surgical debridement and anti-tuberculosis chemotherapy.

BCG Vaccine↗