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Case Reports
. 2021 May 28;9(5):e04079.
doi: 10.1002/ccr3.4079. eCollection 2021 May.

Prenatal-onset INPPL1-related skeletal dysplasia in two unrelated families: Diagnosis and prediction of lethality

Iman Sabri Abumansour  1   2 , Radiah Mahmoud Iskandarani  3 , Alaa Edrees  1 , Farrukh Javed  4 , Fadwah Taher  5 , Ghaidaa Farouk Hakeem  3
Affiliations
Case Reports

Prenatal-onset INPPL1-related skeletal dysplasia in two unrelated families: Diagnosis and prediction of lethality

Iman Sabri Abumansour et al. Clin Case Rep. .

Abstract

This report describes two patients with INPPL1- related skeletal dysplasia diagnosed prenatally. A literature review is conducted to find out if high-lethality is associated with particular pathogenic variants in INPPL1 gene. Prediction of lethality in the prenatal setting has an impact on perinatal management. Some frameshift variants in INPLL1 gene are uniquely observed in lethal cases; however, more patients are needed to confirm the correlation.

Keywords: INPPL1 gene‐related phenotype; Schneckenbecken dysplasia; opsismodysplasia; prenatal whole exome sequencing; skeletal dysplasia.

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Conflict of interest statement

None declared.

Figures

FIGURE 1
FIGURE 1
Family pedigrees
FIGURE 2
FIGURE 2
Examination of the newborn (case A) shows short limbs with small trident hands and feet, and craniofacial dysmorphism including hypertelorism, depressed nasal bridge, short nose with anteverted nares and depressed nasal bridge, long philtrum, and low set deformed ears. Chest appears narrow and abdomen is protuberant. There are peripheral edema and puffy eyelids
FIGURE 3
FIGURE 3
Babygram of case A (gestational age of 33 wk and 2 d). There are shortening of long bones with flared metaphyses, handlebar clavicles, a small chest with short ribs, and small iliac bones with a medial projection of ilia
FIGURE 4
FIGURE 4
Babygram of case B (gestational age of 19 wk). There are shortening of long bones with flared metaphyses, a small chest with horizontal short ribs, platyspondyly, and small iliac bones
See this image and copyright information in PMC

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