M170 SHORT STATURE AND RECURRENT INFECTIONS: A CASE OF CARTILAGE-HAIR HYPOPLASIA FROM COMPOUND HETEROZYGOUS RMRP MUTATIONS

2021 ◽  
Vol 127 (5) ◽  
pp. S99
Author(s):  
A. Lee ◽  
S. Zhang ◽  
C. Cunningham-Rundles
Keyword(s):  
Short Stature ◽  
Compound Heterozygous ◽  
Recurrent Infections ◽  
Cartilage Hair Hypoplasia

Compound heterozygous mutations in the C6 gene of a child with recurrent infections

2014 ◽  
Vol 58 (2) ◽  
pp. 201-205 ◽  
Author(s):  
Dineke Westra ◽  
Roel A.J. Kurvers ◽  
Lambert P. van den Heuvel ◽  
Reinhard Würzner ◽  
Esther P.A.H. Hoppenreijs ◽  
...  
Keyword(s):  
Compound Heterozygous ◽  
Recurrent Infections ◽  
Compound Heterozygous Mutations

scholarly journals Outcomes of 42 pregnancies in 14 women with cartilage-hair hypoplasia: a retrospective cohort study

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Elina Holopainen ◽  
Svetlana Vakkilainen ◽  
Outi Mäkitie
Keyword(s):  
Cesarean Section ◽  
Short Stature ◽  
Population Based ◽  
Full Term ◽  
Birth Length ◽  
Cesarean Section Delivery ◽  
Cartilage Hair Hypoplasia ◽  
Obstetric History ◽  
Induced Abortions ◽  
Ectopic Pregnancies

Abstract Background Cartilage-hair hypoplasia (CHH) is a rare skeletal dysplasia characterized by disproportionate short stature, immunodeficiency, anemia and risk of malignancies. All these features can affect pregnancy and predispose to maternal and fetal complications. This study aimed to evaluate obstetric history and maternal and fetal outcomes in women with CHH. Methods Among 47 Finnish women with CHH, we identified 14 women with ICD codes related to pregnancies, childbirth and puerperium in the National Hospital Discharge Registry and obtained detailed data on gynecologic and obstetric history with a questionnaire. Offspring birth length and weight were collected and compared with population-based normal values. Results There were altogether 42 pregnancies in 14 women (median height 124 cm, range 105–139 cm; 4′1′′, range 3′5′′–4′7′’). Twenty-six pregnancies (62%), including one twin pregnancy, led to a delivery. Miscarriages, induced abortions and ectopic pregnancies complicated 9, 5, and 2 pregnancies, respectively. Severe pregnancy-related complications were rare. All women with CHH delivered by cesarean section, mostly due to evident cephalo-pelvic disproportion, and in 25/26 cases at full-term. In the majority, the birth length (median 48 cm, range 45.5–50 cm; 1′7′′, range 1′6′′–1′8′′) and weight (3010 g, range 2100–3320 g; 6.6 lb, range 4.6–7.3 lb) of the offspring in full-term singleton pregnancies was normal. Conclusions Despite CHH mothers’ significant short stature and other potential CHH-related effects on pregnancy outcome, most pregnancies lead to a term cesarean section delivery. Since fetal growth was generally unaffected, cephalo-pelvic disproportion was evident and planned cesarean section should be contemplated in term pregnancies.

Clinical and genetic aspects of hypophosphatasia in Japanese patients

2013 ◽  
Vol 99 (3) ◽  
pp. 211-215 ◽  
Author(s):  
Takeshi Taketani ◽  
Kazumichi Onigata ◽  
Hironori Kobayashi ◽  
Yuichi Mushimoto ◽  
Seiji Fukuda ◽  
...  
Keyword(s):  
Alkaline Phosphatase ◽  
Respiratory Failure ◽  
Short Stature ◽  
Clinical Features ◽  
Japanese Patients ◽  
Compound Heterozygous ◽  
Homozygous Mutation ◽  
Gradual Improvement ◽  
Clinical Type ◽  
Bone Mineralisation

ObjectiveWe examined the clinical and genetic features of hypophosphatasia (HPP) in Japanese patients. HPP is a rare metabolic bone disorder of bone mineralisation caused by mutations in the liver/bone/kidney alkaline phosphatase (ALPL) gene, which encodes tissue-non-specific alkaline phosphatase isoenzyme. MethodsWe retrospectively investigate the incidence and clinical features of 52 patients with paediatric HPP who were born between 1999 and 2010. Mutations of the ALPL gene were analysed in 31 patients.ResultsThe annual incidence of perinatal lethal HPP (PLH) was estimated to be 2–3/1 000 000 births. The most frequent clinical type was PLH followed by prenatal benign. In addition to bone symptoms, cerebral manifestations were frequently observed including convulsion, mental retardation, deafness and short stature with growth hormone deficiency. Respiratory failure was the most significant predictor of a poor prognosis for PLH. The first and second most frequent mutations in the ALPL gene were c.1559delT and c.T979C (p.F327L), respectively. The c.1559delT homozygous mutation was lethal with respiratory failure. Patients with the p.F327L compound heterozygous mutation had the different non-lethal type with short stature and a gradual improvement in ALP level and bone mineralisation.ConclusionsThe most frequent clinical type was the PLH type with prognosis related to respiratory failure, biochemical/radiological changes and ALPL mutations. Cerebral manifestations frequently occurred. Genotype–phenotype correlations were associated with specific outcomes in the PLH type, whereas different clinical features were associated with the same genotype in the non-lethal type.

3-M syndrome – a primordial short stature disorder with novel CUL7 mutation in two Indian patients

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Radha Rama Devi Akella
Keyword(s):  
Short Stature ◽  
Autosomal Recessive ◽  
Genetic Diagnosis ◽  
Autosomal Recessive Disorder ◽  
Missense Variant ◽  
Postnatal Growth ◽  
Compound Heterozygous ◽  
Case Presentation ◽  
Whole Exome ◽  
Heterozygous Variant

Abstract Objective To evaluate the cause of short stature in children. Case presentation Two children with suspected skeletal dysplasia and short stature were evaluated. Conclusions The 3-M syndrome is a primordial growth disorder manifesting severe postnatal growth restriction, skeletal anomalies and prominent fleshy heels. The 3-M syndrome is a genetically heterogeneous disorder and the phenotype is similar. This is a rare autosomal recessive disorder with normal intellect. Two affected children have been identified by whole-exome sequencing. One patient harboured a compound heterozygous variant and the other was a homozygous missense variant. The genetic diagnosis helped in counselling the families and facilitated prenatal diagnosis in one (case 1) family.

scholarly journals Outcomes of 42 pregnancies in 14 women with cartilage-hair hypoplasia: a retrospective cohort study

2020 ◽  
Author(s):  
Elina Holopainen ◽  
Svetlana Vakkilainen ◽  
Outi Mäkitie
Keyword(s):  
Cesarean Section ◽  
Short Stature ◽  
Population Based ◽  
Full Term ◽  
Birth Length ◽  
Elective Cesarean Section ◽  
Cesarean Section Delivery ◽  
Cartilage Hair Hypoplasia ◽  
Obstetric History ◽  
Elective Cesarean

Abstract Background Cartilage-hair hypoplasia (CHH) is a rare skeletal dysplasia characterized by disproportionate short stature, immunodeficiency, anemia and risk of malignancies. All these features can affect pregnancy and predispose to maternal and fetal complications. This study aimed to evaluate obstetric history and maternal and fetal outcomes in women with CHH. Methods Among 47 Finnish women with CHH, we identified 14 with pregnancy-related diagnoses in the National Hospital Discharge Registry and obtained detailed data on gynecologic and obstetric history with a questionnaire. Offspring birth length and weight were collected and compared with population-based normal values. Results There were altogether 42 pregnancies in 14 women (median height 124 cm, range 105–139). Twenty-six pregnancies (62%), including one twin pregnancy, led to a delivery. Miscarriages, induced abortions and ectopic pregnancies complicated 9, 5, and 2 pregnancies, respectively. Severe pregnancy-related complications were rare. All women with CHH delivered by cesarean section, mostly due to evident cephalo-pelvic disproportion, and in 25/26 cases at full-term. In the majority, the birth length (median 48 cm, range 45.5–50) and weight (3010 g, range 2100–3320) of the offspring in full-term singleton pregnancies was normal. Conclusions Despite CHH mothers’ significant short stature and other potential CHH-related effects on pregnancy outcome, most pregnancies lead to a term cesarean section delivery. Since fetal growth was generally unaffected, cephalo-pelvic disproportion was evident and elective cesarean section should be planned in term pregnancies.

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