Proboscis lateralis

Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly (see these terms).

患者の徴候・症状を入力

症例報告を絞り込む

合計: 24 （症例報告）

（表示件数）

対応する徴候・症状遺伝子変異キーワード（MeSH）

順位（類似度）	PMID (PMCID)
1 (45.9%)	9725533	Supernumerary nostril: a rare congenital deformity. Williams A, Pizzuto M, Brodsky L, Perry R. Int J Pediatr Otorhinolaryngol. 1998;44(2):161-7. [ 抄録を表示 ] [ 抄録を非表示 ]
		脳瘤唇裂


		X線コンピュータ断層撮影ヒト放射性核種イメージング新生児磁気共鳴画像法鼻
2 (39.6%)	10378143	Nasal fossa malformations and paramedian facial cleft: new perspectives. Garabedian EN, Ducroz V, Roger G, Denoyelle F, Catala M. J Craniofac Genet Dev Biol. 1999;19(1):12-9. [ 抄録を表示 ] [ 抄録を非表示 ]
		眼瞼裂


		X線コンピュータ断層撮影ヒト女子供（未就学）幼児後鼻孔閉鎖新生児男磁気共鳴画像法鼻
2 (39.6%)	9207969	[Malformations of the nasal fossa and paramedian facial clefts. New perspectives]. Garabedian EN, Ducroz V, Leperchey F, Roger G, Denoyelle F. Ann Otolaryngol Chir Cervicofac. 1996;113(7-8):373-8. [ 抄録を表示 ] [ 抄録を非表示 ]
		眼瞼裂


		ヒト女子供（未就学）幼児涙器男遡及研究顔面
4 (34.4%)	20509764	A rare case of proboscis lateralis with median cleft lip. Sakamoto Y, Nakajima T, Miyamoto J. Cleft Palate Craniofac J. 2010;47(5):553-6. [ 抄録を表示 ] [ 抄録を非表示 ]
		正中口唇裂


		ヒト再建外科手術口蓋裂女幼児皮弁経過観察頭蓋顔面奇形鼻鼻甲介
5 (32.1%)	23543614	Proboscis lateralis of nose-a case report. Magadum SB, Khairnar P, Hirugade S, Kassa V. Indian J Surg. 2012;74(2):181-3. [ 抄録を表示 ] [ 抄録を非表示 ]
		小眼球吻唇裂



6 (30.8%)	9134295	Heminasal aplasia: a case report and review of the literature of the last 25 years. van Kempen AA, Nabben FA, Hamel BC. Clin Dysmorphol. 1997;6(2):147-52. [ 抄録を表示 ] [ 抄録を非表示 ]
		眼の異常眼瞼裂狭小


		ヒト女新生児眼奇形顎関節異常鼻
7 (29.2%)	20152374	Proboscis lateralis with ipsilateral sinonasal and olfactory pathway aplasia. Vaid S, Shah D, Rawat S, Shukla R. J Pediatr Surg. 2010;45(2):453-6. [ 抄録を表示 ] [ 抄録を非表示 ]
		眼窩嚢胞


		X線コンピュータ断層撮影ヒト嗅覚経路女子供（未就学）希少疾患機能的左右差磁気共鳴画像法頭蓋顔面奇形
7 (29.2%)	1414844	Proboscis lateralis with associated orbital cyst: detailed MR and CT imaging and correlative embryopathy. Poed LB, Hochhauser L, Bryke C, Streeten BW, Sloan J. AJNR Am J Neuroradiol. 1992;13(5):1471-6. [ 抄録を表示 ] [ 抄録を非表示 ]
		眼窩嚢胞


		X線コンピュータ断層撮影ヒト嚢胞新生児男磁気共鳴画像法顔面
9 (26.3%)	31193133	The differential diagnosis of fetal facial tumors: A case report of a neonatal granular cell tumor (GCT). Al Naimi A, Spahn S, Bahlmann F. Case Rep Womens Health. 2019;22:e00121. [ 抄録を表示 ] [ 抄録を非表示 ]
		顔面血管腫



9 (26.3%)	26436002	Proboscis Lateralis : A Rare Bilateral Case in Association with Holoprosencephaly. Kolluru V, Coumary S. J Clin Diagn Res. 2015;9(8):QD03-4. [ 抄録を表示 ] [ 抄録を非表示 ]
		単眼吻

徴候・症状リスト（Orphanetデータベースから取得）

合計: 0

HPO ID	徴候・症状	頻度

徴候・症状リスト（症例報告から取得）

合計: 14

HPO ID	徴候・症状	症例報告数
HP:0000478	眼の異常	2
HP:0000589	コロボーマ	2
HP:0000625	眼瞼裂	2
HP:0001144	眼窩嚢胞	2
HP:0009792	奇形腫	2
HP:0000161	正中口唇裂	1
HP:0000238	水頭症	1
HP:0000316	両眼隔離	1
HP:0000568	小眼球	1
HP:0001028	血管腫	1
HP:0002084	脳瘤	1
HP:0002435	髄膜瘤	1
HP:0012806	吻	1
HP:0030755	Craniofacial teratoma	1

疾患原因遺伝子リスト（Orphanetデータベースから取得）