Robinow syndrome in an extremely preterm infant: Novel homozygous ROR2 variant detected by rapid exome sequencing

Author(s):  
Helen McDermott ◽  
Hannah K. Robinson ◽  
Richard Caswell ◽  
Harsha Gowda ◽  
Amaka Offiah ◽  
...  
Author(s):  
Susmitha Tangirala ◽  
Prakash Amboiram ◽  
Umamaheswari Balakrishnan ◽  
Sandhya Sundaram ◽  
Prakash Agarwal ◽  
...  

Perinatology ◽  
2021 ◽  
Vol 32 (1) ◽  
pp. 31
Author(s):  
Hyun Ah Woo ◽  
Seung Han Shin ◽  
Seung Hyun Shin ◽  
Ee-Kyung Kim ◽  
Han-Suk Kim

2005 ◽  
Vol 81 (7) ◽  
pp. 89-94
Author(s):  
Eduardo C. Tavares ◽  
José Geraldo Ribeiro ◽  
Lorenza A. Oliveira

2021 ◽  
Vol 10 (1) ◽  
Author(s):  
Brigitte Burcescu ◽  
Heather L. Brumberg ◽  
Shetal I. Shah

Abstract Objectives X-linked ichthyosis (XLI) is a genetic disorder caused by a deficiency in steroid sulfatase, an enzyme which catalyzes a reaction in estrone synthesis. The disorder primarily manifests as dry, scaly skin which may be difficult to diagnose in extremely preterm infants, as the dermatological features may be falsely attributed to a normal variant of skin for this population. Case presentation In this case report, we describe a male with XLI, born at 24 weeks gestation, who had persistent dry, flaky and hyperpigmented skin. This case is notable for the age of diagnosis in an extremely premature infant; day of life 105. In addition, this infant experienced out of proportion bronchopulmonary symptoms that we postulate may be linked to the steroid sulfatase deficiency, as estrogen is a mediator of surfactant production. Conclusions This report underscores the need to potentially evaluate persistent dry, flaky skin in the preterm infant, as XLI may also impact long term neurodevelopmental outcomes.


2021 ◽  
Vol 14 (3) ◽  
pp. e239787
Author(s):  
Apoorva Aiyengar ◽  
Claire Howarth ◽  
Sujith Pereira

We present a case of an extreme preterm infant (Baby X) born at 24-week gestation. The echocardiogram showed evidence of hypertrophic cardiomyopathy (HCM) and a patent ductus arteriosus (PDA). There are a number of well-known causes of neonatal HCM including genetic, metabolic and endocrine. PDA is commonly present in preterm infants, and this can contribute to cardiac remodelling and result in cardiac changes mimicking HCM. Furthermore, medications such as steroids can also cause HCM through various mechanisms. A careful consideration of all the different aetiologies for HCM is important for appropriate management of such cases. This report examines the evidence in the literature for the above differential diagnoses and highlights the challenges in diagnosing the underlying cause of HCM in a preterm infant.


2020 ◽  
Vol 5 (1) ◽  
pp. 30 ◽  
Author(s):  
Sudipta Roy Chowdhury ◽  
Srabani Bharadwaj ◽  
Suresh Chandran

Early-onset neonatal sepsis (EOS) is a major cause of neonatal death and long-term neurodevelopmental disabilities among survivors. The common pathogens causing EOS are group B streptococcus (GBS) and Escherichia coli. Haemophilus influenzae (H. influenzae) is a Gram-negative coccobacillus that can cause severe invasive disease and can be divided into either typeable or non-typeable strains. H. influenzae serotype b (Hib) is the most virulent and the major cause of bacterial meningitis in young children prior to routine immunization against Hib. Hib infection rates have dramatically reduced since then. However, a number of studies have reported an increasing incidence of non-typeable H. influenzae (NTHi) sepsis in neonates worldwide and concluded that pregnant women may have an increased risk to invasive NTHi disease with poor pregnancy outcomes. We present a case of fulminant neonatal sepsis caused by NTHi in an extremely preterm infant and discuss potential preventative measures to reduce its re-emergence.


Sign in / Sign up

Export Citation Format

Share Document