Henry Journal of Ophthalmology & Optometry

A congenital syndrome is suspected when there are 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 ab- normality that has major medical, surgical or cosmetic significance, and one major anomaly with two or more minor anomalies are also suggestive of congenital syndrome.

There are a large number of dysmorphic syndromes associated with various 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 abnor- malities occurring in association with hypotonia and developmental delay.

The aim of this paper is to report the occurrence of a new dys- morphic syndrome with the novel occurrence of unique eyebrows abnormalities consisting of splitting with a relatively thick upward slanting medial parts and thin non-slanting lateral parts in associa- tion 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.

A congenital syndrome is suspected when there are more than three minor anomalies which are variations of normal morphologi- calfeatures 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.

There are a large number of dysmorphic syndromes associated with various 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 abnormali- ties occurring in association with hypotonia and developmental delay [1-4].

The aim of this paper is to report the occurrence of a new dysmor- phic syndrome with the novel occurrence of unique eyebrows abnor- malities 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, hy- pertelorism with flat mid-face, epicanthic folds, large ears, developmental delay, and infantile hypotonia mostly attributed to congenital myopathy.

A thirteen-month old boy who was the first born child to non- consanguineous parents was first seen at the pediatric neuropsychi- atry clinic of the Children Teaching Hospital of Baghdad Medical City because of motor developmental delay. The child had hypotonia during infancy, and was not crawling and was unable to sit without support for long time. He has just started babbling. The boy has dis- tinctive facial features Figure 1 including:

Figure 1: The boy unique eyebrows abnormalities consisting of splitting with a rela- tively thick upward slanting medial parts and thin non-slanting lateral parts in asso- ciation with downward slanting palpebral fissures, bilateral convergent squint, hyper- telorism with flat mid-face, epicanthic folds, and large ears.

1. Highly specific unique eyebrows abnormalities consisting of split- ting 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 performed at the age of one month showed normal findings. Screening for several inborn errors of metabolisms has al- ready performed before the patient was seen and were all negative.

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

Table 1: The finding of EMG and nerve conduction studies which were performed at the age of seven months.

Nerve conduction study Table 1 was performed by surface and needle electrode on:

• • Right and left median nerve
• • Right ulnar nerve
• • Right and left sural nerve
• • Right and left common peroneal nerves

Repetitive nerve stimulation with supra-maximal stimulation of the right ulnar, right facial and right axillary at low rates (3Hz) was performed. The right and right axillary decrement test with 10 pulses (5 trials) showed 1% decrement of motor response.

Needle electromyography (EMG) study was performed on:

• • Right FDI
• • Right deltoid.
• • Right biceps.
• • Right biceps.
• • Right anterior.

Needle electromyography (EMG) stud showed:

• • No spontaneous activity
• • No myotonic discharges

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 con- genital myopathy.

The proximal lower limb muscles were more severely involved. Table 2 summarizes the clinical features of the new syndrome.

Table 2: The clinical features of the new syndrome.

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