A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: The Upsilon sign

2010 ◽  
Vol 152A (4) ◽  
pp. 966-969 ◽  
Author(s):  
Gareth Baynam ◽  
Cathy Kiraly-Borri ◽  
Jack Goldblatt ◽  
Jan E. Dickinson ◽  
Gareth P. Jevon ◽  
...  
Keyword(s):  
Skeletal Dysplasia ◽  
Desbuquois Dysplasia ◽  
Lethal Skeletal Dysplasia

Case of Desbuquois dysplasia type 1: Potentially lethal skeletal dysplasia

2014 ◽  
Vol 56 (4) ◽  
pp. e26-e29 ◽  
Author(s):  
Shinkai Inoue ◽  
Atsushi Ishii ◽  
Goro Shirotani ◽  
Makoto Tsutsumi ◽  
Eiji Ohta ◽  
...  
Keyword(s):  
Skeletal Dysplasia ◽  
Desbuquois Dysplasia ◽  
Lethal Skeletal Dysplasia

116 A Lethal Skeletal Dysplasia Resembling Desbuquois Dysplasia.

2006 ◽  
Vol 54 (1) ◽  
pp. S99.6-S100
Author(s):  
V. K. Agarwal ◽  
K. Bui ◽  
D. Salazar ◽  
R. S. Lachman ◽  
D. R. Witt ◽  
...  
Keyword(s):  
Skeletal Dysplasia ◽  
Desbuquois Dysplasia ◽  
Lethal Skeletal Dysplasia

A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huët anomaly

Bone ◽  
2020 ◽  
Vol 141 ◽  
pp. 115601
Author(s):  
Meagan Collins ◽  
Valancy Miranda ◽  
Justine Rousseau ◽  
Lisa E. Kratz ◽  
Philippe M. Campeau
Keyword(s):  
Skeletal Dysplasia ◽  
Receptor Gene ◽  
Lamin B ◽  
Homozygous Variant ◽  
Lamin B Receptor ◽  
Lethal Skeletal Dysplasia

scholarly journals Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Lara Pemberton ◽  
Robert Barker ◽  
Anna Cockell ◽  
Vijaya Ramachandran ◽  
Andrea Haworth ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Skeletal Dysplasia ◽  
Genetic Disorder ◽  
Specific Gene ◽  
Ultrasound Images ◽  
Whole Exome ◽  
Lethal Skeletal Dysplasia

Abstract Background Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on clinical and radiological features. This study describes the first prenatal diagnosis of OCS. Case presentation In this case prenatal ultrasound images were suggestive of a serious but non-lethal skeletal dysplasia. Due to the uncertain prognosis the parents were offered Whole Exome Sequencing (WES), which identified a specific gene mutation in the FAMIIIa gene. This mutation had previously been detected in two cases and was lethal in both perinatally. This established the diagnosis, a clear prognosis and allowed informed parental choice regarding ongoing pregnancy management. Conclusions This case report supports the use of targeted WES prenatally to confirm the underlying cause and prognosis of sonographically suspected abnormalities.

scholarly journals A Rare Cause of Persistent Pulmonary Hypertension Resistant to Therapy in The Newborn: Short-Rib Polydactyly Syndrome

2015 ◽  
Vol 2015 ◽  
pp. 1-3 ◽  
Author(s):  
Nihat Demir ◽  
Erdal Peker ◽  
İbrahim Ece ◽  
Sultan Kaba ◽  
Kemal Ağengin ◽  
...  
Keyword(s):  
Nitric Oxide ◽  
Pulmonary Hypertension ◽  
Cleft Palate ◽  
Skeletal Dysplasia ◽  
Pulmonary Hypoplasia ◽  
Persistent Pulmonary Hypertension ◽  
Term Newborn ◽  
Short Rib Polydactyly Syndrome ◽  
Renal Abnormalities ◽  
Lethal Skeletal Dysplasia

Short-rib polydactyly syndrome is an autosomal recessively inherited lethal skeletal dysplasia. The syndrome is characterized by marked narrow fetal thorax, short extremities, micromelia, cleft palate/lip, polydactyly, cardiac and renal abnormalities, and genital malformations. In cases with pulmonary hypoplasia, persistent pulmonary hypertension of the newborn can develop. In this paper, we present a term newborn with persistent pulmonary hypertension of the newborn, which has developed secondary to short-rib polydactyly syndrome and was resistant to therapy with inhaled nitric oxide and oral sildenafil.

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