Talk:Malpuech facial clefting syndrome

GA Review

This review is transcluded from Talk:Malpuech facial clefting syndrome/GA1. The edit link for this section can be used to add comments to the review.

Reviewer: Sasata (talk) 15:19, 1 March 2011 (UTC)

Hello Robert, it will be my pleasure to review this article.

• First things first: I found a couple of additional sources that weren't used, have you seen them? Let me know if you can't get them and I will email them if I have online access.

Title: MASP1 Mutations in Patients with Facial, Umbilical, Coccygeal, and Auditory Findings of Carnevale, Malpuech, OSA, and Michels Syndromes

Author(s): Sirmaci, A; Walsh, T; Akay, H, et al.

Source: AMERICAN JOURNAL OF HUMAN GENETICS Volume: 87 Issue: 5 Pages: 679-686 Published: 2010

• The abstract is PMID 21035106, with PMC free full text begining 5/12/11. It would be awesome if it were easier for lay people to get full access to certain sources; I can't believe I did not find this earlier... I'm a pubmed junkie! Btw, I think there is enough from this particular abstract to include its suggested association of this mutation to individual features of Malpuech and the other syndromes. Rcej (Robert) - talk 06:31, 2 March 2011 (UTC)

• Found a newer one. Gene implicated... I'll have to ammend the article too. Rcej (Robert) - talk 04:09, 3 March 2011 (UTC)

Title: Malpuech syndrome: facial features in the absence of clefting

Author(s): Finn, SM; Lynch, SA

Source: CLINICAL DYSMORPHOLOGY Volume: 15 Issue: 4 Pages: 243-244 Published: OCT 2006

• Minimal abstract at PMID 16957483

• does Acro-cardio-facial syndrome qualify as a similar disorder? There's an open access review article here

• This article specifically rules out Malpuech syndrome; in spite of AR-inheritance, cleft lip/palate, cardio, and male urogenital similarities, the facial gestalt of ACF syndrome is non-distinct as a rule and Malpuech has no digito-limb involvement. Rcej (Robert) - talk 06:31, 2 March 2011 (UTC)

I'll add all of the genetic mutation stuff ASAP... thought I could en masse in one sitting. Overestimated myself! ;) Rcej (Robert) - talk 08:31, 3 March 2011 (UTC)

 Done Finished with the section. Rcej (Robert) - talk 09:43, 5 March 2011 (UTC)

Looking good, I'll be back later tonight with further instructions :) Sasata (talk) 03:00, 6 March 2011 (UTC)

• preliminary thoughts about the lead (I'll revisit later after I've digested the rest of the article)

• in general, consecutive wikilinks are frowned upon by the MoS; in the lead sentence alone has 4 consecutive links "... autosomal recessive congenital syndrome". Might it be possible to reword to avoid these consecutive links? The lead sentence is pretty hefty, I think it might be worthwhile to try and split into two to make it easier to digest.
• I see you're a fan of citations in the lead. This is a matter of personal preference, but six citations for the lead sentence makes me say "whoa" – it's Hammertime. I like to ease the reader into the subject before I hit them with jargon and citations :)
• "and colleagues" is friendlier then "et al."; "kidney" is easier for the layman than "renal" (and the lead should be written for the layman).
• I don't think "heart" and "face" are high value bluelinks for the lead … doubt anyone is gonna follow a link to find out what a face is

•  Done How's that? Rcej (Robert) - talk 06:48, 6 March 2011 (UTC)=

• Much better, but I'll reserve final judgment 'till later :) Sasata (talk) 22:35, 6 March 2011 (UTC)

• "Malpuech syndrome may be characterized at birth by a feature known as facial clefting." Unclear-can it be characterized at times later than birth? (Since it's congenital, I know the answer, just trying to show how someone might read this.) Should "may be" become "is"?
• "Clefting of this type occurs during… " which type, bilateral or midline?

•  Done

• should probably specify what type of clefting is seen in the infant picture

•  Done

• "Facial and auditory anomalies that may be present with the syndrome include cleft lip and palate," is this different than the cleft lip mentioned a couple of sentences ago?

•  Done

• "In Malpuech syndrome, this was observed by Guion-Almeida (1995) in three affected individuals from Brazil. Each was photographed, and in one case the appendage on radiography appeared as a prominent protrusion of the coccyx." Do we need to know they were photographed? Why is the last instance notable? Was the outgrowth especially prominent?

•  Done

• "From a healthy Japanese couple, Chinen and Naritomi (1995) described their sixth child who had features consistent with the disorder." Chinen and Naritomi's 6th child? Do we need to know the child was referred to as the proband, seeing as that term is not used later in this article?

•  Done

• "9-year-old" MoS says to spell out numbers less than 10

•  Done

• the article has a case of noun +ing and passive tense.. could you sweep through it and check? One example of the latter: "In an investigation by Rooryck et al. (2011), eleven families affected by 3MC syndrome were studied, resulting in the identification of the two mutations." How about this: "In their 2011 investigation, Rooryck and colleagues studied 11 families affected by 3MC syndrome, which enabled them to identify two mutations."

•  Done I would have never noticed this! :) Rcej (Robert) - talk 09:11, 7 March 2011 (UTC)

• gene names should be italicized (protein names are not)

•  Done

• "… the heart and kidney during the embryonic phase." would it be better to replace "embryonic phase" with embryogenesis?

•  Done

• where's the history? Other the brief mention in the lead there's nothing… Had this never been noticed before? Who is Malpuech? Did he name the syndrome after himself, or did someone else name it after him later?

• In progress; will add ASAP. Rcej (Robert) - talk 09:11, 7 March 2011 (UTC)

• Epidemiology: what's the incidence/prevalence? Does it have an ICD-9 or ICD-10 code?

• I'll have to find epidemiology/i/p numbers; the eponym has no ICD-9 or -10 listing, but all manifestations of cleft lip and/or palate do. Rcej (Robert) - talk 09:11, 7 March 2011 (UTC)

• seems to me that this should be linked somewhere in the cleft lip and palate article, but is not. Not a GA requirement, but perhaps you could give it some linklove?

•  Done

BTW, I found two great sources: PMID 20470345 and PMID 17140870. I may take advantage and ask a certain Mushroom guru and mad scientist if he can get access ;) Rcej (Robert) - talk 09:30, 7 March 2011 (UTC)

Send me an email and I will attach the PDFs with my reply. Sasata (talk) 21:48, 7 March 2011 (UTC)

Added merged epidemiolgy and history...not really enough for singles. I will also add diagnosis and treatment sections ASAP; naturally, treatment is mostly surgical corrections...not sure if that actually fits here, though. Thoughts? Rcej (Robert) - talk 09:34, 8 March 2011 (UTC)

• Hi Robert, new additions looking good. Sorry about my late replying, but I've been busy this week, and will have a busy weekend too. Will revisit on Sunday evening. Sasata (talk) 00:42, 12 March 2011 (UTC)

• Update: I've added everything but a prognosis section... not sure if we need that, since it would basically apply to the prognosis of individual characteristics like developmental deficits, hearing impairment and the psychiatric things. I'm wary of synthesis... I've been guilty of that in my wikipast ;) Rcej (Robert) - talk 03:41, 14 March 2011 (UTC)

• Malpuech syndrome is abbreviated MS in the lead, but this abbreviation is not used again in the article. Remove?

•  Done

• I think the wiktionary link is unnecessary in the second sentence, especially as the term facial clefting in linked immediately before it.

•  Done

• the redlinked Juberg-Hayward syndrome in the lead isn't very helpful. Is it considered one of the spectrum of genetic disorders?

•  Done

• "The pattern of inheritance is autosomal recessive." As I read this again, I realized that if I didn't already know what this meant, I might have a tough time figuring it out. Can it be made a bit more lay-friendly?

•  Done

• "It may be characterized by a feature known as facial clefting." Still think "may" is ambiguous here. Does the use of may mean that are instances where no facial cleft is present? I've noticed generally that the article uses too many "may" and "may be"… could you look at each one and see if any meaning is lost by replacing with a more definitive "is"

•  Done

• the last sentence of the first paragraph of characteristics (lists the anomalies) is lengthy and cumbersome. Perhaps split in two sentences, dividing facial and ortho-dental into one and auditory anomalies in the next?

•  Done

• "In Malpuech syndrome, this was observed by Guion-Almeida" do we need the stricken part? The first sentence of the para makes it clear what we're talking about.

•  Done

• "The appendage on radiography" is the jargon word "radiography" better or more accurate than "x-rays"?

•  Done

• "Developmental deficiencies such as mental retardation, learning disability, growth retardation and developmental delay in general are common." Am not clearer to what the "in general" refers: developmental delay; the suite of four deficiencies mentioned; or the commonness of the deficiency(ies).

•  Done

• Could that last stubby sentence of "Characteristics' be combined somewhere?

•  Done

• "…has given rise to the suggestion…" sounds weaselly… probably better just to say who came up with the idea.

•  Done Chopped down to one word...lol

• "This conclusion and naming of 3MC syndrome was supported by Leal et al. (2008), who reported a brother and sister with an array of symptoms that overlapped the various syndromes, with a caudal appendage." noun+ing ("naming") a little awkward; did both brother and sister have the caudal appendage?

•  Done

• "Many of the congenital malformations found with Malpuech syndrome will be corrected surgically." "will be" or "can be"?

•  Done Rcej (Robert) - talk 08:33, 17 March 2011 (UTC)

I've read through the article again and believe it meets the GA criteria, and am promoting it now. Good working with you from the other side! Sasata (talk) 18:15, 19 March 2011 (UTC)

Thanks! I liked switching roles... kind of interesting! Rcej (Robert) - talk 03:42, 20 March 2011 (UTC)

GA review (see here for criteria)

1. It is reasonably well written.

   a (prose): b (MoS):

   The prose is generally clearly written; it's still a little technical in places (but bluelinks and parenthetical def'ns are well-used), as might be expected for an article about a rare genetic disorder.

2. It is factually accurate and verifiable.

   a (references): b (citations to reliable sources): c(OR):

3. It is broad in its coverage.

   a (major aspects): b (focused):

   Well-researched.

4. It follows the neutral point of view policy.

   Fair representation without bias:

5. It is stable.

   No edit wars etc.:

6. It is illustrated by images, where possible and appropriate.

   a (images are tagged and non-free images have fair use rationales): b (appropriate use with suitable captions):

   All image have appropriate free-use licenses.

7. Overall:

   Pass/Fail:

MEDMOS and RS

I see this article is up for GA. Could I remind chief editor and reviewer that the current structure of the article doesn't follow WP:MEDMOS? There's also quite a few sources that don't seem to meet WP:MEDRS. At the same time, this is a rare condition where it is often necessary to use sources that would be unsuitable in more widely researched topics. JFW | T@lk 21:35, 3 March 2011 (UTC)

I'm aware that the structure is not explicitly in sync with MEDMOS :) Keep in mind, the review is in its infancy, the article needs additional work, and both reviewer and editor are experienced... but seriously, I might have nominated a bit prematurely. My bad, alone. Thx for being concerned :) Rcej (Robert) - talk 03:47, 4 March 2011 (UTC)

Headings

Causes and genetics are sort of the same. We should chose one and go with it. I am fine with either but both are not needed.Doc James (talk · contribs · email) 07:34, 3 April 2011 (UTC)

Give me a MEDMOS-specific reason, or I'll need to push for consensus really donkey-like ;) Rcej (Robert) - talk 09:08, 3 April 2011 (UTC)

The text says "Causes: Includes Risk factors, triggers, Genetics or genome, Virology (e.g., structure/Morphology, replication)." There is a colon after causes as that is the main section header. Genetics is one of the possible subheadings. However if the article is exclusively genetic than the subheading can reasonably be used instead of the usual heading.Doc James (talk · contribs · email) 11:19, 3 April 2011 (UTC)

Please read WP:MEDMOS. Doc James (talk · contribs · email) 13:16, 25 May 2011 (UTC)

I get that Causes include genetics; but there is an inheritance component to genetics that is not a cause of the disease, therefore I am considering it as merged content per "Some sections will necessarily be absent or may be better merged, especially if the article is not (yet) fully comprehensive". Also, where in MEDMOS is the article forbidden to have an approved section heading further delineate the content by including its MEDMOS-sanctioned sub-terminology? Show me. :) Rcej (Robert) – talk 06:16, 26 May 2011 (UTC)