We describe a preterm neonate with bilateral coloboma of the iris, upper and lower limb malformations including rocker bottom feet, camptodactyly, and clinodactyly together with microcephaly and small for gestational age whom cytogenetic diagnosis using SNP microarray detected an interstitial deletion of chromosome 2 between 2q31.1 and 33.1.

Here we report the cytogenetic and clinical manifestations observed in a patient with a rec(20)dup(20p)inv(20)(p11.2q13.3)mat. The patient was a full-term newborn girl with asymmetric intrauterine growth restriction and multiple congenital malformations, including a ventricular septal defect, pulmonary atresia, ambiguous genitalia, clinodactyly, and sacral dimpling. To our knowledge, this is th...

The term "failure of differentiation" describes the phenotypes of a large number of otherwise unrelated conditions. The six conditions described here (arthrogryposis, camptodactyly, clinodactyly, Madelung deformity, trigger finger, and trigger thumb) are believed to occur because various structures failed to differentiate normally; however, they have neither common features nor a common cause. ...

background: 49, xxxxy syndrome is a rare sex chromosomal disorder, occurring in 1 per 85,000-100,000 male births. the classical phenotype is ambiguous genitalia, facial dysmorphism, mental retardation and a combination of cardiac, skeletal and other malformations. case: a two month-old boy with intrauterine growth restriction (iugr) and low birth weight, facial dysmorphism, clinodactyly in feet...

UNLABELLED The outcome in patients with chronic myeloid leukemia (CML) has dramatically improved over the last decade due to the widespread use of novel tyrosine kinase inhibitors such as imatinib. As overall survival has improved, the number of women with CML that wish to become pregnant has increased. As such, attending physicians are faced with a dilemma - continue life-prolonging medication...

Bilateral microtia, absent patellae, short stature, poor weight gain, and characteristic facial features are described in two female sibs. Other skeletal anomalies included complete habitual dislocation of the elbow, slender ribs and long bones, abnormal modelling of the glenoid fossae with hooked clavicles, and clinodactyly. Bone age was significantly delayed and there was flattening of the ep...