Chondrodysplasia punctata (Conradi disease).
O'Brien TJ.
Int J Dermatol. 1990 Sep;29(7):472-6. doi: 10.1111/j.1365-4362.1990.tb04835.x.
Brachytelephalangic chondrodysplasia punctata.
Bieganski T, Kozlowski K.
Australas Radiol. 1998 Aug;42(3):244-5. doi: 10.1111/j.1440-1673.1998.tb00506.x.
Chondrodysplasia punctata: a clinical diagnostic and radiological review.
Irving MD, Chitty LS, Mansour S, Hall CM.
Clin Dysmorphol. 2008 Oct;17(4):229-41. doi: 10.1097/MCD.0b013e3282fdcc70.
Spinal deformity in chondrodysplasia punctata.
Mason DE, Sanders JO, MacKenzie WG, Nakata Y, Winter R.
Spine (Phila Pa 1976). 2002 Sep 15;27(18):1995-2002. doi: 10.1097/00007632-200209150-00007.
Chondrodysplasia punctata.
Swoboda W.
J Pediatr. 1977 Nov;91(5):852. doi: 10.1016/s0022-3476(77)81068-8.
[Chondrodysplasia punctata].
Hikino S.
Ryoikibetsu Shokogun Shirizu. 2001;(33):370-1.
A novel frameshift deletion variant of ARSL associated with X-linked recessive chondrodysplasia punctata 1: a case report and literature review of prenatal, confirmed cases.
Zhou L, Peng Y, Chen J, Xi H, Wang S, Kang G, Tang W, Xie W.
BMC Med Genomics. 2024 Oct 18;17(1):253. doi: 10.1186/s12920-024-02029-9.
Chondrodysplasia punctata: case report and review of audiological and ENT features.
Murdin L, Sirimanna T, Hartley BE, Holder SE.
J Laryngol Otol. 2006 Mar;120(3):233-6. doi: 10.1017/S002221510500472X. Epub 2005 Nov 25.
Rhizomelic chondrodysplasia punctata morbidity and mortality, an update.
Duker AL, Niiler T, Kinderman D, Schouten M, Poll-The BT, Braverman N, Bober MB.
Am J Med Genet A. 2020 Mar;182(3):579-583. doi: 10.1002/ajmg.a.61413. Epub 2019 Nov 25.
Airway manifestations of chondrodysplasia punctata.
Seguin JH, Baugh RF, McIntee RA.
Int J Pediatr Otorhinolaryngol. 1993 May;27(1):85-90. doi: 10.1016/0165-5876(93)90040-a.
