scholarly journals Cloverleaf skull-asphyxiating thoracic dysplasia syndrome

2020 ◽  
Author(s):  
Keyword(s):  
Cloverleaf Skull ◽  
Asphyxiating Thoracic Dysplasia

Cloverleaf skull and multiple congenital anomalies in a girl exposed to cocaine in utero: case report and review of the literature

2000 ◽  
Vol 16 (3) ◽  
pp. 0176 ◽  
Author(s):  
M. C. Esmer ◽  
G. Rodriguez-Soto ◽  
D. Carrasco-Daza ◽  
M. L. Iracheta ◽  
V. Del Castillo
Keyword(s):  
Case Report ◽  
Congenital Anomalies ◽  
In Utero ◽  
Review Of The Literature ◽  
Multiple Congenital Anomalies ◽  
Cloverleaf Skull

Thanatophoric dysplasia with cloverleaf-skull

1982 ◽  
Vol 139 (4) ◽  
pp. 298-303 ◽  
Author(s):  
B. Kremens ◽  
H. Kemperdick ◽  
F. Borchard ◽  
U. G. Liebert
Keyword(s):  
Thanatophoric Dysplasia ◽  
Cloverleaf Skull

scholarly journals Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene

2019 ◽  
Vol 120 (4) ◽  
pp. 124-130
Author(s):  
Anna Čechová ◽  
Alice Baxová ◽  
Jiří Zeman ◽  
Lukáš Lambert ◽  
Tomáš Honzík ◽  
...  
Keyword(s):  
Dna Analysis ◽  
Stop Codon ◽  
Premature Stop Codon ◽  
Chest Circumference ◽  
Anthropometric Parameters ◽  
Age Related ◽  
Whole Exome ◽  
Asphyxiating Thoracic Dysplasia ◽  
Health And Disease ◽  
Postnatal Adaptation

Asphyxiating thoracic dysplasia (ATD) represents a heterogeneous group of skeletal dysplasias with short ribs, narrow chest and reduced thoracic capacity. Mutations in several genes including IFT80, DYNC2H1, TTC21B and WDR19 have been found in patients with ATD. Both severe and milder course of the disease were described in correlation with secondary involvement of lung’s function. Two children with attenuated form of ATD are described. Their anthropometric parameters for birth weight, length and head circumference were normal but narrow thorax was observed in both of them in early infancy with chest circumference < –3 SD (standard deviation) in comparison to age related controls. The postnatal adaptation and development of both children was uneventful except for mild tachypnoea in one of them which persisted till the age of 6 months. In both children, radiographs revealed narrow upper half of the chest with shorter ribs and atypical configuration of pelvis with horizontally running acetabula and coarse internal edges typical for ATD. Molecular analyses using whole exome sequencing in one family revealed that the patient is compound heterozygote in DYNC2H1 gene for a frame-shift mutation c.4458delT resulting in premature stop-codon p.Phe1486Leufs*11 and a missense mutation c.9044A>G (p.Asp3015Gly). The second family refused the DNA analysis. Regular monitoring of anthropometric parameters during childhood is of big importance both in health and disease. In addition, measurement of the chest circumference should be included, at least at birth and during infancy.

scholarly journals Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

2013 ◽  
Vol 50 (2) ◽  
pp. 91-98 ◽  
Author(s):  
Geneviève Baujat ◽  
Céline Huber ◽  
Joyce El Hokayem ◽  
Roseline Caumes ◽  
Claire Do Ngoc Thanh ◽  
...  
Keyword(s):  
Asphyxiating Thoracic Dysplasia

scholarly journals VP13.15: Cloverleaf skull associated with novel microarray and skeletal anomalies

2020 ◽  
Vol 56 (S1) ◽  
pp. 106-106
Author(s):  
D.N. Jackson ◽  
P. Patil ◽  
B.K. Brar ◽  
Z. Li ◽  
M. Matsunaga‐Kirgan
Keyword(s):  
Skeletal Anomalies ◽  
Cloverleaf Skull

Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: Prenatal diagnosis, clinical and pathological findings

1992 ◽  
Vol 42 (1) ◽  
pp. 122-126 ◽  
Author(s):  
Giovanni Corsello ◽  
Emiliano Maresi ◽  
Cinzia Rossi ◽  
Liborio Giuffrè ◽  
Ettore Cittadini
Keyword(s):  
Prenatal Diagnosis ◽  
Monozygotic Twins ◽  
Pathological Findings ◽  
Thanatophoric Dysplasia ◽  
Cloverleaf Skull
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