Int J Clin Pediatr

International Journal of Clinical Pediatrics, ISSN 1927-1255 print, 1927-1263 online, Open Access

Article copyright, the authors; Journal compilation copyright, Int J Clin Pediatr and Elmer Press Inc

Journal website http://www.theijcp.org

Case Report

Volume 3, Number 4, December 2014, pages 117-120

Report of the First Moroccan Case of Fusion of Metacarpals 4/5 and Review of the Literature

Figure 1. Hand malformation observed in our patient upper limb. (a) Ulnar deviation and shortening of fifth fingers seen upon clinical assessment. (b) Radiograph of the hands showing bilateral partial fusion of metacarpals 4 and 5 and bilateral shortening of fifth metacarpals.

Figure 2. Electropherograms of the nonsense mutation c.C535T (p.R179X) identified in FGF16 gene: in heterozygote state in the patient (a) and in hemizygous state in his mother (b).

**Table 1.** Clinical and Molecular Findings of the Reported FGF16 Mutated Patients With MF4
Reference	Patient	Origin	Age	Clinical findings	Additionnal clinical findings	Mutation	Exon
NA: not available.
Jamsheer et al, 2013 [8]	Patient 1	Germany	12 years	Bilateral metacarpal 4-5 fusion	Triangular face, upslanted palpebral fissures, and thin upper lip Inguinal hernia and hydrocoele of the testis Hyperactivity	c.C535T (p.R179X)	Exon 3
Patient 2	Poland	NA	Bilateral metacarpal 4-5 fusion	None	c.C470A (p.S157X)	Exon 3
Jamsheer et al, 2013 [8]	Proband	Poland	5 years	Bilateral metacarpal 4-5 fusion	Easy bruisable skin slender Slender upper and lower extremities Pectus carinatum Generalized joint laxity and hyperextensibility	c.474_477del (p.E158DfsX25)	Exon 3
Laurell et al, 2014 [10]	Patient 1	Sweden	38 years	Bilateral metacarpal 4-5 fusion	Eight FGF16 mutation-carrying members family of the patient had reported cardiac symptoms	c.361G>T (p.G121*)	Exon 2
Patient 2	South America	10 years	Bilateral metacarpal 4-5 fusion	None	c.378G>C (p.S126S)	Exon 2
Patient 3	Sweden	14 years	A fusion of the proximal part of the fourth and the fifth metacarpals on the left side	None	c.203G>T (p.R68L)	Exon 1
Jones et al, 2014 [12]	Proband	British	23 years	Bilateral metacarpal 4-5 fusion	Bilateral high-arched feet, large first toes, swelling of the dorsum of both feet, and sandal gap Flexion deformity of the first metatarsophalangeal joints	c.275_293dup (p.Ser98Argfs*28)	Exon 2
Our patient	Proband	Morocco	14 months	Bilateral metacarpal 4-5 fusion	Upslanted palpebral fissures, thin upper lip, and bulbous nose	c.C535T (p.R179X)	Exon 3

Table 1. Clinical and Molecular Findings of the Reported FGF16 Mutated Patients With MF4

Reference

Patient

Origin

Age

Clinical findings

Additionnal clinical findings

Mutation

Exon

NA: not available.

Jamsheer et al, 2013 [8]

Patient 1

Germany

12 years

Bilateral metacarpal 4-5 fusion

Triangular face, upslanted palpebral fissures, and thin upper lip
Inguinal hernia and hydrocoele of the testis
Hyperactivity

c.C535T (p.R179X)

Exon 3

Patient 2

Poland

Bilateral metacarpal 4-5 fusion

None

c.C470A (p.S157X)

Exon 3

Jamsheer et al, 2013 [8]

Proband

Poland

5 years

Bilateral metacarpal 4-5 fusion

Easy
bruisable skin slender
Slender upper and lower extremities
Pectus carinatum
Generalized joint laxity and hyperextensibility

c.474_477del (p.E158DfsX25)

Exon 3

Laurell et al, 2014 [10]

Patient 1

Sweden

38 years

Bilateral metacarpal 4-5 fusion

Eight FGF16 mutation-carrying members family of the patient had reported cardiac symptoms

c.361G>T (p.G121*)

Exon 2

Patient 2

South America

10 years

Bilateral metacarpal 4-5 fusion

None

c.378G>C (p.S126S)

Exon 2

Patient 3

Sweden

14 years

A fusion of the proximal part of the fourth and the fifth metacarpals on the left side

None

c.203G>T (p.R68L)

Exon 1

Jones et al, 2014 [12]

Proband

British

23 years

Bilateral metacarpal 4-5 fusion

Bilateral high-arched feet, large first toes, swelling of the dorsum of both feet, and sandal gap
Flexion deformity of the first metatarsophalangeal joints

c.275_293dup
(p.Ser98Argfs*28)

Exon 2

Our patient

Proband

Morocco

14 months

Bilateral metacarpal 4-5 fusion

Upslanted palpebral fissures, thin upper lip, and bulbous nose

c.C535T (p.R179X)

Exon 3