*RECORD*
*FIELD* NO
100050
*FIELD* TI
100050 AARSKOG SYNDROME, AUTOSOMAL DOMINANT
*FIELD* TX
Grier et al. (1983) reported father and 2 sons with typical Aarskog
syndrome, including short stature, hypertelorism, and shawl scrotum.
They tabulated the findings in 82 previous cases. X-linked recessive
inheritance has repeatedly been suggested (see 305400). The family
reported by Welch (1974) had affected males in 3 consecutive
generations. Thus, there is either genetic heterogeneity or this is an
autosomal dominant with strong sex-influence and possibly ascertainment
bias resulting from use of the shawl scrotum as a main criterion.
Stretchable skin was present in the cases of Grier et al. (1983).

Teebi et al. (1993) reported the case of an affected mother and 4 sons
(including a pair of monozygotic twins) by 2 different husbands. They
suggested that the manifestations were as severe in the mother as in the
sons and that this suggested autosomal dominant inheritance. Actually,
the mother seemed less severely affected, compatible with X-linked
inheritance.

*FIELD* RF
1. Grier, R. E.; Farrington, F. H.; Kendig, R.; Mamunes, P.: Autosomal
dominant inheritance of the Aarskog syndrome. Am. J. Med. Genet. 15:
39-46, 1983.

2. Teebi, A. S.; Rucquoi, J. K.; Meyn, M. S.: Aarskog syndrome: report
of a family with review and discussion of nosology. Am. J. Med. Genet. 46:
501-509, 1993.

3. Welch, J. P.: Elucidation of a 'new' pleiotropic connective tissue
disorder. Birth Defects Orig. Art. Ser. X(10): 138-146, 1974.

*FIELD* CS

Growth:
   Mild to moderate short stature

Head:
   Normocephaly

Hair:
   Widow's peak

Facies:
   Maxillary hypoplasia;
   Broad nasal bridge;
   Anteverted nostrils;
   Long philtrum;
   Broad upper lip;
   Curved linear dimple below the lower lip

Eyes:
   Hypertelorism;
   Ptosis;
   Down-slanted palpebral fissures;
   Ophthalmoplegia;
   Strabismus;
   Hyperopic astigmatism;
   Large cornea

Ears:
   Floppy ears;
   Lop-ears

Mouth:
   Cleft lip/palate

GU:
   Shawl scrotum;
   Saddle-bag scrotum;
   Cryptorchidism

Limbs:
   Brachydactyly;
   Digital contractures;
   Clinodactyly;
   Mild syndactyly;
   Transverse palmar crease;
   Lymphedema of the feet

Joints:
   Ligamentous laxity;
   Osteochondritis dissecans;
   Proximal finger joint hyperextensibility;
   Flexed distal finger joints;
   Genu recurvatum;
   Flat feet

Skin:
   Stretchable skin

Spine:
   Cervical spine hypermobility;
   Odontoid anomaly

Heme:
   Macrocytic anemia;
   Hemochromatosis

GI:
   Hepatomegaly;
   Portal cirrhosis;
   Imperforate anus;
   Rectoperineal fistula

Pulmonary:
   Interstitial pulmonary disease

Thorax:
   Sternal deformity

Inheritance:
   Sex-influenced autosomal dominant form;
   also X-linked form

*FIELD* CD
Victor A. McKusick: 6/4/1986

*FIELD* ED
carol: 02/16/2011
alopez: 6/3/1997
mimadm: 3/11/1994
carol: 7/7/1993
supermim: 3/16/1992
supermim: 3/20/1990
ddp: 10/26/1989
marie: 3/25/1988

#!/usr/bin/perl
open(DATA, 'omim.txt');
# or die("Could not open omim file.");
open(MYOUTPUT, ">omimgenes.txt");
# or die ("could not open omimgenes file.");
while(<DATA>)
{
if (/^\*FIELD\*\sTI$/)
{
my $gene_record=readline(DATA);
foreach ($gene_record =~m/^\*/)
{
print MYOUTPUT $gene_record;
}
}
}
close(MYOUTPUT);
close(DATA);