scholarly journals Ectrodactyly‐ectodermal dysplasia‐clefting syndrome presenting with bilateral choanal atresia and rectal stenosis

2020 ◽  
Vol 182 (8) ◽  
pp. 1939-1943
Author(s):  
Alexandra J. Childs ◽  
David C. Mabin ◽  
Peter D. Turnpenny
1989 ◽  
Vol 26 (9) ◽  
pp. 586-589 ◽  
Author(s):  
J Christodoulou ◽  
P N McDougall ◽  
L J Sheffield

1999 ◽  
Vol 8 (4) ◽  
pp. 287???290 ◽  
Author(s):  
Anne Slavotinek ◽  
Jill Clayton-Smith

JAMA ◽  
1966 ◽  
Vol 195 (6) ◽  
pp. 494-495 ◽  
Author(s):  
R. E. Rossman

Author(s):  
M. Spector ◽  
A. C. Brown

Ion beam etching and freeze fracture techniques were utilized in conjunction with scanning electron microscopy to study the ultrastructure of normal and diseased human hair. Topographical differences in the cuticular scale of normal and diseased hair were demonstrated in previous scanning electron microscope studies. In the present study, ion beam etching and freeze fracture techniques were utilized to reveal subsurface ultrastructural features of the cuticle and cortex.Samples of normal and diseased hair including monilethrix, pili torti, pili annulati, and hidrotic ectodermal dysplasia were cut from areas near the base of the hair. In preparation for ion beam etching, untreated hairs were mounted on conducting tape on a conducting silicon substrate. The hairs were ion beam etched by an 18 ky argon ion beam (5μA ion current) from an ETEC ion beam etching device. The ion beam was oriented perpendicular to the substrate. The specimen remained stationary in the beam for exposures of 6 to 8 minutes.


1973 ◽  
Vol 6 (3) ◽  
pp. 783-789
Author(s):  
Emanuel M. Skolnik ◽  
Robert Kotier ◽  
Wafik A. Hanna
Keyword(s):  

2020 ◽  
Author(s):  
Christopher Pool ◽  
Roshan Nayak ◽  
Meghan Wilson

Skull Base ◽  
2009 ◽  
Vol 19 (S 02) ◽  
Author(s):  
T.F. Terzis

Author(s):  
CHAITHRA KALKUR ◽  
NILOFER HALIM ◽  
ANUSHA RANGARE ◽  
Rumisha .

Ectodermal dysplasia is a heterogeneous group of inherited disorder affecting two or more ectodermally derived tissues such as skin, hair, nails, eccrine glands and teeth. The disorder is of two types: Hypohydrotic ectodermal dysplasia/Christ seimens –Touraine syndrome and Hydrotic ectodermal dysplasia/clousten syndrome. Commonly associated signs include hypohidrosis, anomalous dentition, onychodysplasia, hypotrichosis. Multidisciplinary approaches are required for optimal treatment3. Here, we present two cases of 19 and 13 year old male siblings who were diagnosed with the disorder based upon their clinical features. Key Words: ectodermal dysplasia, hypodontia; anomalous dentition.


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