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Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation
Author(s) -
Gargano Giancarlo,
Guidotti Isotta,
Balestri Eleonora,
Vagnarelli Federica,
Rosato Simonetta,
Comitini Giuseppina,
Wischmeijer Anita,
La Sala Giovanni Battista,
Iughetti Lorenzo,
Cordeddu Viviana,
Rossi Cesare,
Tartaglia Marco,
Garavelli Livia
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36376
Subject(s) - noonan syndrome , hydrops fetalis , polyhydramnios , hydrothorax , medicine , missense mutation , edema , complication , pleural effusion , fetus , ascites , pregnancy , mutation , biology , genetics , gene
Fetal hydrops is a condition resulting from interstitial fluid accumulation in fetal compartments secondary to increased capillary permeability and characterized by high rates of perinatal mortality and morbidity. Clinical features include skin edema, hydrothorax, pericardial effusion, ascites with or without polyhydramnios, and placental edema. While it may occur as associated feature in multiple disorders, it has been documented to recur in Noonan syndrome, the most common disorder among RASopathies, but also in cardiofaciocutaneous and Costello syndromes. Here, we report on the occurrence of severe hydrops in a newborn heterozygous for the invariant c.4A>G missense change in SHOC2 which underlies Noonan‐like syndrome with loose anagen hair, documenting that it represents a clinically relevant complication in this condition, shared by RASopathies. © 2014 Wiley Periodicals, Inc.