Results 191 to 200 of about 62,388 (273)

Recognizing multiple epiphyseal dysplasia in children presenting with joint pain: a commonly overlooked skeletal dysplasia. [PDF]

Eur J Pediatr
Daşar T, İmren G, Yıldız AE, Demir GÜ, Utine GE, Yılmaz G, Kiper PÖŞ.   +6 more
europepmc   +1 more source

Juvenile idiopathic arthritis or skeletal dysplasia: first case report of camptodactyly-arthropathy-coxa vara-pericarditis from Iran. [PDF]

BMC Musculoskelet Disord
Shashaani N, Javadi V, Rahmani K, Shiari R.   +3 more
europepmc   +1 more source

First Complete Morphological Description of Schistosoma Reflexum in a Llama

Veterinary Medicine and Science, Volume 12, Issue 3, May 2026.
ABSTRACT Schistosoma reflexum (SR) is a lethal congenital malformation characterized by severe spinal retroflexion, thoracoabdominoschisis with visceral exposure. This case report aims to describe the morphology and pathology of SR in a llama. A white male llama (Lama glama) cria was delivered with dystocia following a normal gestation.
Carmen Luginbühl, Lea A. Hiller, Elke Van der Vekens, Bettina A. Weber, Cord Drögemüller, Patrik Zanolari, Corinne Gurtner, Joana Jacinto   +7 more
wiley   +1 more source

Mutations in fibronectin dysregulate chondrogenesis in skeletal dysplasia. [PDF]

Cell Mol Life Sci
Dinesh NEH, Rousseau J, Mosher DF, Strauss M, Mui J, Campeau PM, Reinhardt DP.   +6 more
europepmc   +1 more source

McCune Albright Syndrome (MAS) : polyostotic fibrous dysplasia [PDF]

, 2017
Augsburg, Lukasz, Gielen, Jan, Vanhoenacker, Filip   +2 more
core   +2 more sources

A Case of Congenital Hypothyroidism in Cats: Diagnostic Challenges and Therapeutic Outcomes

Veterinary Medicine and Science, Volume 12, Issue 3, May 2026.
Congenital hypothyroidism in a 3‐year‐old Persian cat was diagnosed via low total thyroxine levels unresponsive to TSH stimulation, alongside clinical signs of dwarfism and renal failure. Levothyroxine therapy significantly improved renal function and activity within 1 week.
Morteza Ezati Kakalar, Farkhondeh Fahim Dezhban, Amin Zamani, Sina Sabour Razlighi   +3 more
wiley   +1 more source

Skeletal Dysplasias

, 2011
  +5 more sources

Skeletal Phenotype in Mulibrey Nanism, A Monogenic Skeletal Dysplasia With Fibrous Dysplasia. [PDF]

Clin Genet
Karlberg S, Toiviainen-Salo S, Lipsanen-Nyman M, Mäkitie O.   +3 more
europepmc   +1 more source

Japanese Clinical Practice Guidelines for Vascular Tumors, Vascular Malformations, Lymphatic Malformations, and Lymphangiomatosis 2022

The Journal of Dermatology, Volume 53, Issue 5, Page e257-e356, May 2026.
ABSTRACT The objective was to prepare guidelines to perform the current optimum treatment by organizing effective and efficient treatments of hemangiomas and vascular malformations, confirming the safety, and systematizing treatment, employing evidence‐based medicine techniques and aimed at improvement of the outcomes.
Yoshiaki Kinoshita, Kosuke Ishikawa, Sadanori Akita, Katsuyoshi Koh, Satoru Sasaki, Masatoshi Jinnin, Hidefumi Mimura, Keigo Osuga, Michio Ozeki, Michiko Nagahama, Akihiro Fujino, Yoko Aoki, Akiko Asai, Noriko Aramaki‐Hattori, Ryohei Ishiura, Masanori Inoue, Yuki Iwashina, Takafumi Ohshiro, Keiko Ogawa, Mine Ozaki, Junko Ochi, Shiro Onozawa, Motoi Kato, Takahide Kaneko, Tamihiro Kawakami, Akira Kitagawa, Masakazu Kurita, Yoshihiro Kuwano, Taro Kono, Shien Seike, Shinsuke Takagi, Nobuyuki Takakura, Takao Tachibana, Shuichi Tanoue, Kumiko Chuman, Hiroki Nakaoka, Yasuhiro Nakamura, Fumio Nagai, Yasunari Niimi, Shunsuke Nosaka, Taiki Nozaki, Tadashi Nomura, Kazuki Hashimoto, Ayato Hayashi, Satoshi Hirakawa, Takeshi Hirabayashi, Taizo Furukawa, Hiroshi Furukawa, Yumiko Hori, Takanobu Maekawa, Kentaro Matsuoka, Hideki Mori, Eiichi Morii, Akira Morimoto, Yuta Moriwaki, Shunsuke Yuzuriha, Naoaki Rikihisa, Munezumi Fujita, Yasuyuki Yamahana, Kyoichi Deie, Asami Tozawa, Daisuke Hasegawa, Akira Higashiyama, Daisuke Maeda, Sachiko Asayama, Yuhki Arai, Yohei Iwata, Mayu Uka, Hidehito Usui, Mizuki Uchiyama, Saori Endo, Hideki Endo, Rintaro Ono, Naoya Oshima, Toshihiro Otsuka, Kuniaki Ohara, Shinji Kagami, Tomo Kakihara, Mototoshi Kato, Hiroki Kanamori, Masafumi Kamata, Ami Kawaguchi, Akiko Kishi, Hiroshi Kitagawa, Kiyokazu Kim, Tamotsu Kobayashi, Takeshi Saito, Yusuke Shikano, Shuichi Shimada, Keisuke Suzuki, Masataka Takahashi, Shohei Takami, Reiko Takeda, Aya Tanaka, Kaishu Tanaka, Satoru Tamura, Masashi Tamura, Kanako Danno, Kenji Tsuboi, Yuta Nakajima, Ryo Nakatani, Miho Noguchi, Akifumi Nozawa, Naoki Hashizume, Masashi Hayakawa, Daichi Hayashi, Takaya Fukumoto, Mamoru Honda, Norifumi Matsuda, Hayato Maruguchi, Naoki Murakami, Kiichiro Yaguchi, Shiho Yasue, Hiroki Yoshihara, Rika Yoshimatsu, Kiyohito Yamamoto, Shinji Wada   +116 more
wiley   +1 more source

Skeletal dysplasia-causing mutations in TRPV4 alter the chondrocyte transcriptomic response to mechanical loading. [PDF]

Am J Physiol Cell Physiol
Harissa Z, Kim Y, Dicks AR, Steward N, Guilak F.   +4 more
europepmc   +1 more source