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Table 1 Clinical findings in patients with 1p36 deletion syndrome and Prader-Willi-like phenotype

From: Type II diabetes and impaired glucose tolerance due to severe hyperinsulinism in patients with 1p36 deletion syndrome and a Prader-Willi-like phenotype

Clinical findings

Case 1

Case 2

D’Angelo et al., 2006 [[11]]

D’Angelo et al., 2010 [[23]]

Eugster et al., 1997 [[21]]

Tsuyusaki et al., 2010 [[24]]

Tsuyusaki et al., 2010 [[24]]

Microcephaly

+

+

-

-

-

-

-

Brachycephaly

+

+

-

-

+

-

-

Straight eyebrows

+

+

+

+

 

+

+

Deep-set eyes

+

+

+/-

+/-

+

+

+

Epicanthal folds

+

+

-

-

-

-

-

Broad nasal root/bridge

+

+

-

-

+

+

-

Posteriorly rotated/low-set/abnormal ears

+

+

-

-

-

+

-

Pointed chin

+

+

-

-

+

+

-

Midface hypoplasia

+

+

-

-

+

+

+

Short feet

+

+

+

+

+

+

+

Developmental delay

+

+

+

+

+

+

+

Mental retardation

+

+

+

+

+

+

+

Hypotonia

+

+

+

+

+

+

+

Seizures

+

+

-

-

+

+

+

Brain abnormalities

-

-

  

-

+

+

Sensorineural deafness

+/-

+/-

-

-

+

+/-

-

Strabismus

+

+

-

-

+

-

-

Expressive language (poor/absent)

+

+

+

+

+

+

+

Behavioural disorders

+

+

+

+

+

+

+

Heart abnormalities

-

-

-

-

ND

+

-

Renal abnormalities

-

-

-

-

ND

-

-

External genitalia abnormalities

-

-

-

-

ND

-

-

Poor neonatal weight

+

+

+

+

+/-

+

-

Poor neonatal length

+

+

+

+

ND

-

+

Hyperphagia

+

+

+

+

+

+

+

Obesity

+

+

+

+

+

+

+

Hyperinsulinism

+

+

ND

ND

ND

ND

ND

Thyroid disorders

-

-

+ (thyroid nodules)

+

ND

ND

ND

  1. + = present.
  2. - = not present.
  3. ND = not determined.