Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 14-Day Trial for You or Your Team.

Learn More →

Clinico-radiological and biochemical clues to early diagnosis of mucolipidosis type II

Clinico-radiological and biochemical clues to early diagnosis of mucolipidosis type II Short case report 23 Clinico-radiological and biochemical clues to early diagnosis of mucolipidosis type II a a a a Sapna Sandal , Sunita Bijarnia Mahay , Deepti Gupta , Renu Saxena , a b a Jyotsna Verma , Kamal Kant Saxena and Ratna Dua Puri Clinical Dysmorphology 2022, 31:23–27 Correspondence to Ratna Dua Puri, MD, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, Delhi 110060, India a b Institute of Medical Genetics and Genomics and Department of Tel: +91 9811869192; e-mail: ratnadpuri@yahoo.com Radiodiagnosis, Sir Ganga Ram Hospital, New Delhi, Delhi, India Received 2 June 2021 Accepted 17 August 2021 List of key features Patient 3 Bent long tubular bones He was second born to a nonconsanguineous couple, with Coarse facies a history of previous pregnancy discontinued for short Periosteal cloaking and bent long bones seen on antenatal scans. No testing Secondary hyperparathyroidism was done for an etiological diagnosis. He was born pre- Stippling term (34 weeks) and had a birth weight of 2000 g (−0.62 z), length of 38 cm (−2.67 z) and head circumference at 30 cm Summary (−0.75 z). He was examined on day 9 of life. He also had coarse facial features http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Dysmorphology Wolters Kluwer Health

Clinico-radiological and biochemical clues to early diagnosis of mucolipidosis type II

Download PDF
5 pages

Loading next page...
 
/lp/wolters-kluwer-health/clinico-radiological-and-biochemical-clues-to-early-diagnosis-of-0UfKwvCzUM

References

References for this paper are not available at this time. We will be adding them shortly, thank you for your patience.

Publisher
Wolters Kluwer Health
Copyright
Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.
ISSN
0962-8827
eISSN
1473-5717
DOI
10.1097/mcd.0000000000000388
Publisher site
See Article on Publisher Site

Abstract

Short case report 23 Clinico-radiological and biochemical clues to early diagnosis of mucolipidosis type II a a a a Sapna Sandal , Sunita Bijarnia Mahay , Deepti Gupta , Renu Saxena , a b a Jyotsna Verma , Kamal Kant Saxena and Ratna Dua Puri Clinical Dysmorphology 2022, 31:23–27 Correspondence to Ratna Dua Puri, MD, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, Delhi 110060, India a b Institute of Medical Genetics and Genomics and Department of Tel: +91 9811869192; e-mail: ratnadpuri@yahoo.com Radiodiagnosis, Sir Ganga Ram Hospital, New Delhi, Delhi, India Received 2 June 2021 Accepted 17 August 2021 List of key features Patient 3 Bent long tubular bones He was second born to a nonconsanguineous couple, with Coarse facies a history of previous pregnancy discontinued for short Periosteal cloaking and bent long bones seen on antenatal scans. No testing Secondary hyperparathyroidism was done for an etiological diagnosis. He was born pre- Stippling term (34 weeks) and had a birth weight of 2000 g (−0.62 z), length of 38 cm (−2.67 z) and head circumference at 30 cm Summary (−0.75 z). He was examined on day 9 of life. He also had coarse facial features

Journal

Clinical Dysmorphology – Wolters Kluwer Health

Published: Jan 22, 2022

References

  • Should neonatal hyperparathyroidism associated with mucolipidosis II/III be treated pharmacologically?
    Alegra, T; Cury, G; Todeschini, LA; Schwartz, IV
  • Defects in transport: mucolipidosis II alpha/beta, mucolipidosis III alpha/beta and mucolipidosis III gamma.
    Annick, RR; Sandra, P; Thomas, B; Mehta, AB; Winchester, B
  • A case of I-cell disease (mucolipidosis II) presenting with short femurs on prenatal ultrasound and profound diaphyseal cloaking.
    Capobres, T; Sabharwal, G; Griffith, B
  • Early characteristic radiographic changes in mucolipidosis II.
    Lai, LM; Lachman, RS
  • GNPTAB-Related Disorders.
    Leroy, JG; Cathey, SS; Friez, MJ; Adam, MP; Ardinger, HH; Pagon, RA; Wallace, SE; Bean, LJH; Mirzaa, G; Amemiya, A
  • A neonate with mucolipidosis II and transient secondary hyperparathyroidism.
    Leyva, C; Buch, M; J Wierenga, K; Berkovitz, G; Seeherunvong, T
  • Identification of novel and known mutation in 19 patients with mucolipidosis type II and III from India and validation of novel method of screening for mucolipidosis-II and III screening.
    Mistri, MA; Dalal, A; Nath, P; Nampoothiri, S; Mehta, S; Singh, A
  • Mucolipidosis II presenting as severe neonatal hyperparathyroidism.
    Unger, S; Paul, DA; Nino, MC; McKay, CP; Miller, S; Sochett, E
  • The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: update on GNPTAB and GNPTG mutations.
    Velho, RV; Harms, FL; Danyukova, T; Ludwig, NF; Friez, MJ; Cathey, SS
  • Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II.
    Wang, Y; Ye, J; Qiu, WJ; Han, LS; Gao, XL; Liang, LL