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Shinelkimo
Joined: 25 Apr 2007
Posts: 61
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 Posted: Thu May 24, 2007 1:45 am Post subject: Achondroplasia |
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Q: Achondroplasia (1)
?T 2. can be excluded by a normal fetal femur length measured by ultrasound at 18 weeks of pregnancy |
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cpeedahsa
Century Club
Joined: 21 Apr 2007
Posts: 927
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| Posted: Thu May 24, 2007 4:16 am Post subject: Re: Achondroplasia |
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| Shinelkimo wrote: | Q: Achondroplasia (1)
?T 2. can be excluded by a normal fetal femur length measured by ultrasound at 18 weeks of pregnancy |
False
Ref: http://www.emedicine.com/orthoped/topic4.htm
| Quote: | Prenatal ultrasound
Heterozygous achondroplasia is associated with normal or near normal femur lengths until 20-24 weeks of pregnancy. Thereafter the growth rate of the femur decreases. Hence, ultrasound may not be useful for diagnosing achondroplasia in the first half of the pregnancy.
Later in the pregnancy, ultrasound can detect short-limb dysplasia. However, differentiation among various skeletal dysplasias is difficult. |
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rpwalavalkar
Teale Fenning Administrator
Joined: 20 Jul 2006
Posts: 1050
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| Posted: Thu May 24, 2007 11:36 pm Post subject: |
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agree with ashadeep,
the measurement is at 22 - 24 weeks. also ratios of long bones are as important as single long bone length.
raj
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Dr Miss. Raj Walavalkar MBBS MRCOG
TealeFenning Administrator
SR O&G Wessex Region |
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Shinelkimo
Joined: 25 Apr 2007
Posts: 61
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| Posted: Wed Jul 25, 2007 1:15 pm Post subject: |
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| is it related with polyhydramnios? |
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cpeedahsa
Century Club
Joined: 21 Apr 2007
Posts: 927
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| Posted: Wed Jul 25, 2007 9:32 pm Post subject: |
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| Shinelkimo wrote: | | is it related with polyhydramnios? |
Yes, achondroplasia is associated with polyhydramnios
Last edited by cpeedahsa on Thu Jul 26, 2007 11:05 pm; edited 2 times in total |
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rpwalavalkar
Teale Fenning Administrator
Joined: 20 Jul 2006
Posts: 1050
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| Posted: Thu Jul 26, 2007 8:42 am Post subject: |
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yes -- is associated with polyhydramnios.
other features on USS may be---
shortened limbs -- symmetric micromelia,
a narrow thorax,
flattened vertebrae,
frontal bossing,
Brachydactyly
scapular anomalies,
fetal facial hypoplasia -- flattened nasal bridge and proptotic eyes
cloverleaf-shaped skull
Protuberant abdomen
Hydrocephalus
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Dr Miss. Raj Walavalkar MBBS MRCOG
TealeFenning Administrator
SR O&G Wessex Region |
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stewartdisu
Joined: 24 Jun 2007
Posts: 20
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| Posted: Fri Jul 27, 2007 2:04 pm Post subject: ACHONDROPLASIA |
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Late onset achondroplasia can occur after 18 weeks
so my answer to the initial question would be false |
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shama
Joined: 17 May 2007
Posts: 44
Location: Malaysia
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| Posted: Fri Oct 05, 2007 2:37 am Post subject: |
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| Reference for association of Achondroplasia with polyhydroamnios? |
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cpeedahsa
Century Club
Joined: 21 Apr 2007
Posts: 927
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| Posted: Sat Oct 06, 2007 5:39 pm Post subject: |
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| shama wrote: | | Reference for association of Achondroplasia with polyhydroamnios? |
Causes of polyhydramnios include the following:
diabetes mellitus,
hydrops fetalis,
esophageal atresia,
duodenal atresia/stenosis,
gastroschisis,
diaphragmatic hernia,
thoracic and mediastinal masses,
anencephaly,
muscular dystrophy,
myotonic dystrophy,
chromosomal anomalies (eg, trisomy 21),
cardiovascular diseases,
skeletal dysplasias (including achondroplasia), neuromuscular anomalies,
severe fetal anemia,
sacrococcygeal teratoma,
placental chorioangioma,
placental arteriovenous fistula,
congenital syphilis,
viral hepatitis,
diabetes insipidus,
twin-twin transfusion syndrome,
idiopathic causes,
maternal substance abuse,
Beckwith-Wiedemann syndrome,
Pena-Shakir syndrome . |
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cpeedahsa
Century Club
Joined: 21 Apr 2007
Posts: 927
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| Posted: Sat Oct 06, 2007 5:40 pm Post subject: |
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The etiologic factors are categorized as follows:
(1) maternal causes,
(2), intrinsic or extrinsic obstruction of the gastrointestinal tract,
(3) neurologic and neuromuscular problems impairing swallowing,
(4) fetal polyuria,
(5) high-output congestive cardiac failure,
(6) congenital infection,
(7) idiopathic causes,
( skeletal dysplasias and syndrome. |
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cpeedahsa
Century Club
Joined: 21 Apr 2007
Posts: 927
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drhatta
Joined: 20 Feb 2007
Posts: 43
Location: Malaysia
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| Posted: Thu Jul 09, 2009 10:17 pm Post subject: mental retardation |
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| Achonroplasia is not assocaited with mental retardation (F)?? |
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Nick Raine-Fenning
Course Director
Joined: 27 May 2006
Posts: 2037
Location: Nottingham
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| Posted: Fri Jul 10, 2009 6:34 am Post subject: Re: mental retardation |
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| drhatta wrote: | | Achonroplasia is not assocaited with mental retardation |
True - there is no relationship despite many thoughts to the contrary. |
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salihabduallah
Century Club
Joined: 04 Sep 2007
Posts: 185
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| Posted: Fri Jul 17, 2009 8:13 pm Post subject: |
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| reference pls [ if available ] ? |
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