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Congenital Anomalies

Congenital Anomalies is a scientific journal, published since 1987 in English and Japanese. The journal's country of origin is Australia.
Details
Abbr. Congenit Anom (Kyoto)
Start 1987
End Continuing
Frequency Quarterly
p-ISSN 0914-3505
e-ISSN 1741-4520
Country Australia
Languages English
Japanese
Recent Articles
1.
Severe pharyngeal stenosis and laryngomalacia in an individual of HNRNPU-related neurodevelopmental disorder associated with a novel nonsense variant
Sasaki Y, Murakami H, Kuroda Y, Enomoto Y, Naruto T, Nagara S, et al.
Congenit Anom (Kyoto) . 2025 Feb; 65(1):e70006. PMID: 39965881
Heterozygous loss-of-function variants in heterogeneous nuclear ribonucleoprotein U (HNRNPU) cause early-onset developmental and epileptic encephalopathy with multiple congenital anomalies. Limited clinical information is currently available on HNRNPU-related neurodevelopmental disorder. The...
2.
Experimental study on the preventive effect of Anemarrhena rhizome on pregnancy loss and the incidence rate of cleft palate in A/J mice
Gantugs A, Niimi T, Inoue M, Chimedtseren I, Sakuma C, Natsume N, et al.
Congenit Anom (Kyoto) . 2025 Jan; 65(1):e70005. PMID: 39853683
Pregnancy loss is a significant concern worldwide, encompassing miscarriage and stillbirth. Miscarriage, defined as the loss of a baby before 28 weeks of gestation, accounts for approximately 15% of pregnancies....
3.
An immunohistochemical study of thanatophoric dysplasia type 1 after fetus autopsy examination
Abba Deka I, Theotokis P, Manthou M, Mathioudi A, Athanasiou E, Meditskou S
Congenit Anom (Kyoto) . 2025 Jan; 65(1):e70004. PMID: 39778871
The current case report presents the postmortem examination findings of a 17-week-old female fetus displaying thanatophoric dysplasia type 1 (TD-1) due to a known fibroblast growth factor receptor 3 (FGFR3)...
4.
Accuracy of body weight estimation for fetuses with congenital diaphragmatic hernia
Sunakawa T, Iwatani S, Yoshimoto S
Congenit Anom (Kyoto) . 2025 Jan; 65(1):e70003. PMID: 39778861
No abstract available.
5.
Karyotype and phenotype association in Turner syndrome with non-mosaic X chromosome structural rearrangements: Systematic review
Tanoshima M, Tanoshima R, Takase H, Yamamoto D, Aoki S, Sakakibara H, et al.
Congenit Anom (Kyoto) . 2025 Jan; 65(1):e70002. PMID: 39743222
Turner syndrome is a chromosomal disorder, characterized by the partial or total deletion of one X chromosome, resulting in various karyotypes that presumably lead to different phenotypes. However, most studies...
6.
The role of sonic hedgehog signaling in the oropharyngeal epithelium during jaw development
Takeuchi R, Takechi M, Namangkalakul W, Ninomiya Y, Furutera T, Aoto K, et al.
Congenit Anom (Kyoto) . 2024 Dec; 65(1):e70001. PMID: 39727066
Sonic hedgehog (Shh) is expressed in the oropharyngeal epithelium, including the frontonasal ectodermal zone (FEZ), which is defined as the boundary between Shh and Fgf8 expression domains in the frontonasal...
7.
Risk factors for isolated congenital heart defects in infants from Western Mexico
Cruz-Cruz J, Nieto-Garcia R, Rivera-Ramirez P, Pena-Padilla C, Bobadilla-Morales L, Corona-Rivera A, et al.
Congenit Anom (Kyoto) . 2024 Dec; 65(1):e12589. PMID: 39727037
Congenital heart defects (CHDs) are caused by a complex interaction between numerous genetic and environmental risk factors, some of which may differ between different populations. A case-control study was conducted...
8.
Polysplenia and developmental delay in a case of microduplication in the 1p36.11 region involving the ARID1A gene
Kataoka M, Kuroda Y, Tanaka H, Sato A, Kato M
Congenit Anom (Kyoto) . 2024 Dec; 65(1):e70000. PMID: 39711212
No abstract available.
9.
A case series study on the safety of cefditoren pivoxil use during the first trimester of pregnancy in Japan
Honma M, Suzuki N, Goto M, Obara T, Saito Y, Nakajima K, et al.
Congenit Anom (Kyoto) . 2024 Dec; 65(1):e12588. PMID: 39617399
We evaluated the teratogenic risk associated with exposure to cefditoren pivoxil during the first trimester of pregnancy using the integrated databases of the Toranomon Hospital and the National Center for...
10.
Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte-lineage cells established from patients with Sjögren-Larsson syndrome
Yamaguchi Y, Okuno H, Tokuoka S, Kita Y, Sanosaka T, Kohyama J, et al.
Congenit Anom (Kyoto) . 2024 Dec; 65(1):e12587. PMID: 39617394
Sjögren-Larsson syndrome (SLS) is an autosomal recessive leukodystrophy characterized by ichthyosis, intellectual disability, and progressive spastic paralysis caused by biallelic pathogenic variants in the ALDH3A2 gene that encodes the fatty...