Reverse Slanting of Split Eyebrows and Palpebral Fissures: A New Dysmorphic Syndrome

Table of contents

1. Reverse Slanting of Split Eyebrows and

Palpebral Fissures: A New Dysmorphic Syndrome

Aamir Jalal Al Mosawi Abstract-A dysmorphic syndrome is suspected in the presence of more than three minor anomalies which are variations of normal morphological features that are considered of little or no known medical, surgical, or cosmetic significance; more than one major anomaly which is an abnormality that has major medical, surgical or cosmetic significance; and one major anomaly with two or more minor anomalies are also suggestive of congenital syndrome. Many congenital syndromes are associated with different combinations of hypertelorism (with or without flat mid-face), epicanthic folds, convergent squint, low set ears, upward and downward slanting of the palpebral fissures, and eyebrows abnormalities occurring in association with hypotonia and developmental delay.

The aim of this paper is to describe the occurrence of a new congenital syndrome with the novel association of unique eyebrows abnormalities (splitting with a relatively thick upward slanting medial parts and thin non-slanting lateral parts) with downward slanting palpebral fissures, bilateral convergent squint, hypertelorism with flat mid-face, epicanthic folds, large ears, developmental delay, and infantile hypotonia mostly attributed to congenital myopathy.

2. I. Introduction

dysmorphic syndrome is suspected in the presence of more than three minor anomalies which are variations of normal morphological features that are considered of little or no known medical, surgical, or cosmetic significance; more than one major anomaly which is an abnormality that has major medical, surgical or cosmetic significance; and one major anomaly with two or more minor anomalies are also suggestive of congenital syndrome. Many congenital syndromes are associated with different combinations of hypertelorism (with or without flat midface), epicanthic folds, convergent squint, low set ears, upward and downward slanting of the palpebral fissures, and eyebrows abnormalities occurring in association with hypotonia and developmental delay [1,2,3,4].

The aim of this paper is to describe the occurrence of a new congenital syndrome with the novel association of unique eyebrows abnormalities (splitting with a relatively thick upward slanting medial parts and

3. EMG and nerve conduction studies were performed at the age of seven months (Table-1).

Nerve conduction study (Table -

4. Needle electromyography (EMG) stud showed:

No spontaneous activity.

No myotonic discharges.

5. The average duration of 20 motor units:

Right deltoid= 5.1 msec (n=8.3 msec). Right biceps = 4.8 msec (n=8.1 msec). Right vastus medialis = 4.1 msec (n=8.3 msec). Right tibialis anterior = 5.3 msec (n= 10.2 msec). Left tibialis anterior = 5.2 msec (n= 12.5 msec). 30-40% polyphasia of short duration low amplitude was observed.

EMG and nerve conduction studies suggested chronic diffuse non dystrophic myopathic of moderate severity mostly resulting from congenital myopathy.

The proximal lower limb muscles were more severely involved.

6. Summarizes the clinical features of the new syndrome

Figure 1. FFigure 1 :
1Figure 1: The boy unique eyebrows abnormalities consisting of splitting with a relatively thick upward slanting medial parts and thin non-slanting lateral parts in association with downward slanting palpebral fissures, bilateral convergent squint, hypertelorism with flat mid-face, epicanthic folds, and large ears.
Figure 2.
thin non-slanting lateral parts) with downward slanting
palpebral fissures, bilateral convergent squint,
hypertelorism with flat mid-face, epicanthic folds, large
ears, developmental delay, and infantile hypotonia
mostly attributed to congenital myopathy.
II. Case Report
1. Highly specific unique eyebrows abnormalities
consisting of splitting with a relatively thick upward
slanting medial parts and thin non-slanting lateral
parts.
2. Downward slanting palpebral fissures.
3. Epicanthic folds.
4. Hypertelorism.
5. Depressed nasal bridge.
6. Large ears.
7. Convergent squints of both eyes.
Brain MRI was performed at the age of one
month showed normal findings.
Screening for several inborn errors of
metabolisms has already revealed no abnormality.
Note: Author: 1. Advisor in Pediatrics and Pediatric Psychiatry Children Teaching Hospital of Baghdad Medical City. 2. Head, Iraq Headquarter of Copernicus Scientists International Panel, Baghdad, Ira. e-mail: [email protected] A
Figure 3. Table 2 :
2
Sporadic occurrence
Non consanguineous parents
Splitting of eyebrows with a relatively thick upward slanting medial parts and thin non-slanting
lateral parts
Downward slanting palpebral fissures
Epicanthic folds
Hypertelorism
Depressed nasal bridge
Large ears
Convergent squints of both eyes.
Infantile hypotonia attributed to congenital myopathy
Figure 4. Table 1 :
1
Sensory Motor
Nerve Latency msec/cm Amplitude ?V SNCV m/sec Muscle DML Msec /cm MNCV msec /cm F-wave Latency
Right median 2.1 26.6 56.2 ABP 3.1 50.2 16.5
Right ulnar 1.9 27.3 56.6 ADM 2.9 51.2 17.2
Right common peroneal Tibialis Ant. EDB 3.3 4.2 40.2 35.3
Left common peroneal Tibialis Ant. EDB 3 4.1 40.3 36.3
Left sural 2 15.3 44.6
Figure 5. Table 4 .
4

Appendix A

Appendix A.1 Acknowledgement

The author would to express his gratitude for the parents of the patients who accepted publishing his photos.

Appendix B

  1. Rare genetic disorders in Iraq, A J Al-Mosawi . Saarbrücken: LAP Lambert Academic Publishing. 1 p. 2011. (st ed.)
  2. The uncommon and rare genetic disorders in Iraq, A J Al-Mosawi . Saarbrücken: LAP Lambert Academic Publishing. p. 2019. (st ed.)
  3. Recognizable patterns of human malformation: genetic, embryologic, and clinical aspects". Major problems in clinical pediatrics, S W David . 1970. 7 p. 368.
Home 
Date: 2020 2020-01-15