223:
264:
123:
Hartwell EA, Robinson LK, Robinson LH, Aceves J (February 1988). "Congenital optic atrophy and brachytelephalangy: the Berk-Tabatznik syndrome".
293:
102:
288:
257:
298:
250:
238:
204:
175:
283:
90:
8:
64:
140:
98:
40:
230:
132:
180:
234:
52:
277:
48:
44:
136:
69:
144:
167:
55:. This condition is extremely rare with only two cases being found.
199:
122:
222:
95:
Syndromes: rapid recognition and perioperative implications
88:
157:
275:
89:Bruno B, Luginbuehl I, Dalens BJ, eds. (2006).
258:
43:with an unknown cause that shows symptoms of
265:
251:
276:
97:. New York: McGraw-Hill. p. 94.
30:Kyphosis brachyphalangy optic atrophy
217:
125:American Journal of Medical Genetics
294:Syndromes affecting the optic nerve
13:
115:
14:
310:
153:
221:
82:
1:
75:
237:. You can help Knowledge by
7:
289:Syndromes affecting stature
58:
10:
315:
216:
190:
161:
91:"Berk–Tabatznik Syndrome"
26:
21:
137:10.1002/ajmg.1320290220
37:Berk–Tabatznik syndrome
22:Berk–Tabatznik syndrome
299:Genetic disorder stubs
65:Heart-hand diseases
191:External resources
53:brachytelephalangy
246:
245:
214:
213:
104:978-0-07-135455-4
41:medical condition
34:
33:
16:Medical condition
306:
267:
260:
253:
231:genetic disorder
225:
218:
159:
158:
148:
109:
108:
86:
19:
18:
314:
313:
309:
308:
307:
305:
304:
303:
274:
273:
272:
271:
215:
210:
209:
186:
185:
170:
156:
151:
118:
116:Further reading
113:
112:
105:
87:
83:
78:
61:
17:
12:
11:
5:
312:
302:
301:
296:
291:
286:
284:Rare syndromes
270:
269:
262:
255:
247:
244:
243:
226:
212:
211:
208:
207:
195:
194:
192:
188:
187:
184:
183:
171:
166:
165:
163:
162:Classification
155:
154:External links
152:
150:
149:
131:(2): 383–389.
119:
117:
114:
111:
110:
103:
80:
79:
77:
74:
73:
72:
67:
60:
57:
32:
31:
28:
24:
23:
15:
9:
6:
4:
3:
2:
311:
300:
297:
295:
292:
290:
287:
285:
282:
281:
279:
268:
263:
261:
256:
254:
249:
248:
242:
240:
236:
233:article is a
232:
227:
224:
220:
219:
206:
202:
201:
197:
196:
193:
189:
182:
178:
177:
173:
172:
169:
164:
160:
146:
142:
138:
134:
130:
126:
121:
120:
106:
100:
96:
92:
85:
81:
71:
68:
66:
63:
62:
56:
54:
50:
49:optic atrophy
47:, congenital
46:
45:short stature
42:
38:
29:
25:
20:
239:expanding it
228:
198:
174:
128:
124:
94:
84:
70:Rare disease
36:
35:
27:Other names
278:Categories
76:References
200:Orphanet
59:See also
181:C535432
145:3128111
143:
101:
229:This
39:is a
235:stub
205:1559
176:MeSH
141:PMID
99:ISBN
51:and
133:doi
280::
203::
179::
139:.
129:29
127:.
93:.
266:e
259:t
252:v
241:.
168:D
147:.
135::
107:.
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
