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Several studies have demonstrated a significantly increased risk of specific patterns of congenital anomalies in infants born to diabetic mothers. In particular, caudal dysplasia sequence has been linked to pregnancy complicated by maternal diabetes. In addition, several cases of infants born to diabetic mothers presenting with features of DiGeorge anomaly have been reported. Infants with DiGeorge anomaly can display additional manifestations within the spectrum of caudal dysplasia sequence, including vertebral anomalies and renal agenesis.
We report a neonate presenting with the co-occurrence of features of both DiGeorge anomaly and caudal dysplasia sequence, born to a mother with poorly controlled insulin-dependent diabetes.
The patient was affected by truncus arteriosus type A1 and hypertrophic cardiomyopathy.
Maternal diabetes can cause a spectrum of manifestations, expressing with isolated DiGeorge anomaly or caudal dysplasia sequence, with intermediate phenotypes or with the co-occurrence of both the congenital anomalies in the same patient. The present observations argue for a feasible link between truncus arteriosus with hypertrophic cardiomiopathy, DiGeorge anomaly, and maternal diabetes.
The revolution in molecular genetics is contributing to the understanding of normal and abnormal cardiovascular development and morphogenesis. Recent investigations have shown that a growing number of congenital heart malformations is due to single gene defects. The combined contribution of clinical and molecular studies is providing the chromosomal map of the genes related to these isolated cardiac defects, and to syndromes characteristically associated with specific cardiac malformations. These advances are relevant to clinical practice, since the accumulated knowledge can improve the quality of management of affected patients.
A scoring method for the diagnosis of Turner's syndrome (T.S.), based on five dermatoglyphic and four skeletal characteristics, showing significant frequency variations between patients and normal females, is presented. The dermatoglyphic characteristics include: total finger ridge count, ab ridge count, maximal atd angle, T line terminating in the second interdigital interval, and presence of hypothenar patterns. The skeletal characteristics include: carpal sign, metacarpal sign, phalangeal sign, and abnormally shaped distal phalanges. Arbitrary score numbers have been assigned to each characteristic, depending on the magnitude of the difference between patients and controls; the partial scores were added up to form the final T.S. score. The diagnostic value of T.S. score has been proved, since it is well separating the patients from normal females. The probability that an individual with a given T.S. score has the Turner's syndrome has been estimated.
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