1q44 microdeletion syndrome: A new case with potential additional features

1q44 microdeletion syndrome (1q44 monosomy) is a newly described genetic syndrome characterized by the haploinsufficiency of a 6 Mb locus on the long arm of chromosome 1. The main features are global developmental delay, seizures, hypotonia and craniofacial dysmorphism. With a prevalence below one in a million cases, this syndrome is very rare and, hence, often passes undiagnosed. We present the case of a one year old girl admitted to our hospital with global developmental delay and several congenital abnormalities suggesting a plurimalformative syndrome. Microarray analysis detected a 967 kb deletion in the 1q44 region as well as a a 530 kb microduplication in the 14q31.1q31.2 region, the latter having unknown clinical significance as it contains no currently known OMIM genes. The patient’s phenotype was in accordance to 1q44 microdeletion syndrome. Furthermore, after studying the 1q44 microdeletion syndrome cases reported so far in the literature, we have noticed that our patient presented previously undescribed features of this syndrome, namely prenatal hydronephrosis, bifid hallux and grey matter heterotopy. Based on the cerebral, renal and skeletal involvement in 1q44 microdeletion syndrome, we suspect these might be additional, previously unreported features of 1q44 microdeletion syndrome.

One-year follow-up results of patients with prenatally diagnosed hydronephrosis and evaluation of renal functions

Introduction: Hydronephrosis is the most common urologic anomaly detected in the fetus. Obstructive uropathy can cause long-term mortality and morbidity by leading to renal damage and decreasing renal functions. Objective: We aimed to determine the etiological reasons and frequency of prenatal determined hydronephrosis, also to evaluate the association between some (clinical and laboratory) parameters and renal functions during study. Patients and method: 48 patients with antenatally detected hydronephrosis were followed prospectively. The ultrasonography scan and renal functioning tests were performed on day 3rd-7th of life and repeated on week 4th-6th, months 3rd, 6th and 12nd. Results: The degree of hydronephrosis at the end of study was decreased significantly when compared to antenatal hydronephrosis severity (p<0.05). Transient hydronephrosis was diagnosed in 22 (28.9%) of 76 renal unit with prenatal hydronephrosis. Ureteropelvic junction obstruction was the most common cause of antenatal hydronephrosis. Positive correlations between the end study glomerular filtration rate (GFR) and tubular reabsorption of phosphate, blood urea nitrogen and creatinine levels were found at the end of the study. Some significant negative correlations between the end study GFR and fractional excretions of K+ and Mg++ were found at several periods of the study. Conclusion: Transient hydronephrosis is one of the most important reasons of prenatally detected hydronephrosis. The patients with antenatal hydronephrosis must be followed-up closely. Tubular functioning test may be impaired in early stages. The episodic evaluation of tubular functions may predict renal damage before the development of renal failure.

Postnatal outcomes of babies diagnosed with hydronephrosis in utero in a tertiary care centre in India over half a decade

Background Prenatal hydronephrosis is defined as the dilatation of the fetal renal pelvis and/or calyces and is the commonest anomaly detected in utero Methods This was a retrospective study to look at how well 148 antenatally detected cases of fetal hydronephrosis correlated with postnatal evaluation. Results Antenatal hydronephrosis was detected with a prevalence of 0.33%. The mean gestational age at diagnosis was 25.48 [standard deviation (SD) 6.36]. One hundred and sixteen (78.3%) fetuses had serial ultrasound scans during pregnancy to look for the progression of the condition. At the time of diagnosis, 30.1% of the fetuses were diagnosed to have mild hydronephrosis, 43.9% to have moderate hydronephrosis and 25.8% to have severe hydronephrosis. Follow-up ultrasounds during the prenatal period, 65% showed progression of the renal pelvis dilatation, 25.8% showed stable disease and 9.1% showed resolution on their subsequent scan. Almost half (46%) were found to have transient/physiological hydronephrosis. Thirty-one (20.9%) of the babies required an operation. An anteroposterior renal pelvis diameter (APD) of the fetal renal pelvis ≥17.5 mm can predict the need for surgery with a sensitivity of 70% and a specificity of 76.6%. Conclusion Counselling and decisions must be based on a series of ultrasound scans rather than a single evaluation. We use a cut-off of 17.5 mm as an indicator of possible postnatal surgical intervention.