Lethal multiple pterygium syndrome

Lethal multiple pterygium syndrome Relevant markers:

AkinesiaCamptodactylyCryptoorchidismElbow pterygiaGeneralized edemaHydropsHypertelorismLong philtrumLymphangioma of neckMicrognathia/retrognathiaNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaPolyhydramniosPterygia of kneeSevere IUGR/SGATalipesContinuous head flexion

Parents markers:

Cleft in hard palateCleft lipContractures/arthrogryposisExtremitiesHeartMicrocephalyPyelectasis/hydronephrosisVentriculomegalyVertebral body

Involved genes:
(gene — definition — chromosome)

CHRNA1 — 2q31.1, CHRND — 2q37.1, CHRNG — 2q37.1

Inheritance mode:

AR, X-linked

Other online databases:

OrphaNet, OMIM, Geneva Foundation, Jablonski's Database

References:

2012	J Clin Imaging Sci	Case report	Read on PubMed
2012	Taiwan J Obstet Gynecol	Review	Read on PubMed
2016	J Med Ultrason (2001)	Case report	Read on PubMed